Online Mendelian Inheritance in Man - IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618986 http://purl.bioontology.org/ontology/OMIM/618986
Preferred Name	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
Synonyms	IMD73B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD73B
prefLabel	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
Gene Symbol	IMD73A IMD73B IMD73C RAC2
Scope Statement	Caused by mutation in the RAS-related C3 botulinum toxin substrate 2 gene (RAC2, 602049.0002) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Hematopoietic stem cell transplant is curative [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001686 http://purl.bioontology.org/ontology/OMIM/MTHU073922 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU073916 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU073917 http://purl.bioontology.org/ontology/OMIM/MTHU073915 http://purl.bioontology.org/ontology/OMIM/MTHU073920 http://purl.bioontology.org/ontology/OMIM/MTHU073913 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU005462 http://purl.bioontology.org/ontology/OMIM/MTHU002638 http://purl.bioontology.org/ontology/OMIM/MTHU005751 http://purl.bioontology.org/ontology/OMIM/MTHU073923 http://purl.bioontology.org/ontology/OMIM/MTHU073921 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU043282 http://purl.bioontology.org/ontology/OMIM/MTHU037495 http://purl.bioontology.org/ontology/OMIM/MTHU073914 http://purl.bioontology.org/ontology/OMIM/MTHU034281 http://purl.bioontology.org/ontology/OMIM/MTHU073919 http://purl.bioontology.org/ontology/OMIM/MTHU073918 http://purl.bioontology.org/ontology/OMIM/MTHU012038 http://purl.bioontology.org/ontology/OMIM/MTHU047700 http://purl.bioontology.org/ontology/OMIM/MTHU037263 See more See less
tui	T047
Gene Locus	22q12.3-q13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618986
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436549
OMIM Entry Type	3
OMIM MimType Value	pound

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