Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

N-ACETYLGLUCOSAMINIDASE, ALPHA-

Synonyms

VARIANT OF UNKNOWN SIGNIFICANCE

ID

http://purl.bioontology.org/ontology/OMIM/609701

altLabel

VARIANT OF UNKNOWN SIGNIFICANCE

N-ACETYL-ALPHA-GLUCOSAMINIDASE

MUCOPOLYSACCHARIDOSIS, TYPE IIIB

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (1 family)

N-ACETYL-ALPHA-D-GLUCOSAMINIDASE

NAGLU

cui

C4225506

C0086648

C1417593

C2986382

Gene Locus

17q21

Gene Symbol

MPS3B

CMT2V

NAGLU

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/609701.0001

http://purl.bioontology.org/ontology/OMIM/609701.0014

http://purl.bioontology.org/ontology/OMIM/609701.0012

http://purl.bioontology.org/ontology/OMIM/609701.0013

http://purl.bioontology.org/ontology/OMIM/609701.0005

http://purl.bioontology.org/ontology/OMIM/609701.0007

http://purl.bioontology.org/ontology/OMIM/609701.0006

http://purl.bioontology.org/ontology/OMIM/609701.0010

http://purl.bioontology.org/ontology/OMIM/609701.0003

http://purl.bioontology.org/ontology/OMIM/609701.0015

http://purl.bioontology.org/ontology/OMIM/609701.0011

http://purl.bioontology.org/ontology/OMIM/609701.0008

http://purl.bioontology.org/ontology/OMIM/609701.0002

http://purl.bioontology.org/ontology/OMIM/609701.0004

http://purl.bioontology.org/ontology/OMIM/609701.0016

http://purl.bioontology.org/ontology/OMIM/609701.0009

MIMTYPEMEANING

Gene with known sequence

notation

609701

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

N-ACETYLGLUCOSAMINIDASE, ALPHA-

tui

T028

T033

T086

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E76.22 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D009084 Medical Subject Headings CUI