Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

DYNAMIN 2

Synonyms

MYOPATHY, CENTRONUCLEAR, 1

ID

http://purl.bioontology.org/ontology/OMIM/602378

altLabel

MYOPATHY, CENTRONUCLEAR, 1

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA

LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 family)

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B

DYN2

DNM2

cui

C1834558

C4016788

C1847902

C1414120

Gene Locus

19p13.2

Gene Symbol

CMTDIB

LCCS5

DNM2

CMT2M

CMTDI1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602378.0002

http://purl.bioontology.org/ontology/OMIM/602378.0013

http://purl.bioontology.org/ontology/OMIM/602378.0006

http://purl.bioontology.org/ontology/OMIM/602378.0007

http://purl.bioontology.org/ontology/OMIM/602378.0008

http://purl.bioontology.org/ontology/OMIM/602378.0010

http://purl.bioontology.org/ontology/OMIM/602378.0011

http://purl.bioontology.org/ontology/OMIM/602378.0012

http://purl.bioontology.org/ontology/OMIM/602378.0003

http://purl.bioontology.org/ontology/OMIM/602378.0004

http://purl.bioontology.org/ontology/OMIM/602378.0009

http://purl.bioontology.org/ontology/OMIM/602378.0005

http://purl.bioontology.org/ontology/OMIM/602378.0001

MIMTYPEMEANING

Gene with known sequence

notation

602378

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

DYNAMIN 2

tui

T028

T019

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564703 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/CLO_SCN/CLO_0053453 Cell Line Ontology (Chinese Translation) LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102798 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/PR_000006603 Protein Ontology LOOM
http://purl.bioontology.org/ontology/MESH/D020914 Medical Subject Headings CUI