Preferred Name

RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2

Synonyms

IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS

ID

http://purl.bioontology.org/ontology/OMIM/602049

altLabel

IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS

RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC2

RAC2

IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA

IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA

cui

C5436550

C1842398

C5436549

C1419228

Gene Locus

22q12.3-q13.2

Gene Symbol

IMD73B

IMD73C

IMD73A

RAC2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602049.0004

http://purl.bioontology.org/ontology/OMIM/602049.0005

http://purl.bioontology.org/ontology/OMIM/602049.0002

http://purl.bioontology.org/ontology/OMIM/602049.0001

http://purl.bioontology.org/ontology/OMIM/602049.0003

MIMTYPEMEANING

Gene with known sequence

notation

602049

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000013661 Protein Ontology / 蛋白质本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179401 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C564275 Medical Subject Headings / 医学主题词表 CUI