Online Mendelian Inheritance in Man - IMMUNODEFICIENCY 23 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615816 http://purl.bioontology.org/ontology/OMIM/615816
Preferred Name	IMMUNODEFICIENCY 23
Synonyms	IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT IMD23 IVMS IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT IMD23 IVMS IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME
prefLabel	IMMUNODEFICIENCY 23
Gene Symbol	IMD23 PGM3 AGM1
Scope Statement	Caused by mutation in the phosphoglucomutase-3 gene (PGM3, 172100.0001) [MOLECULAR BASIS] Onset in early childhood [MISCELLANEOUS] Neurologic features are variable and not progressive [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/MTHU047036 http://purl.bioontology.org/ontology/OMIM/MTHU047048 http://purl.bioontology.org/ontology/OMIM/MTHU047047 http://purl.bioontology.org/ontology/OMIM/MTHU047039 http://purl.bioontology.org/ontology/OMIM/MTHU044789 http://purl.bioontology.org/ontology/OMIM/MTHU047052 http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU048518 http://purl.bioontology.org/ontology/OMIM/MTHU042304 http://purl.bioontology.org/ontology/OMIM/MTHU047044 http://purl.bioontology.org/ontology/OMIM/MTHU047042 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU047040 http://purl.bioontology.org/ontology/OMIM/MTHU036370 http://purl.bioontology.org/ontology/OMIM/MTHU001691 http://purl.bioontology.org/ontology/OMIM/MTHU047045 http://purl.bioontology.org/ontology/OMIM/MTHU047053 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU000363 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU011875 http://purl.bioontology.org/ontology/OMIM/MTHU005751 http://purl.bioontology.org/ontology/OMIM/MTHU007823 http://purl.bioontology.org/ontology/OMIM/MTHU047037 http://purl.bioontology.org/ontology/OMIM/MTHU047054 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU047041 http://purl.bioontology.org/ontology/OMIM/MTHU006263 http://purl.bioontology.org/ontology/OMIM/MTHU003537 http://purl.bioontology.org/ontology/OMIM/MTHU047049 http://purl.bioontology.org/ontology/OMIM/MTHU047050 http://purl.bioontology.org/ontology/OMIM/MTHU032911 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU047046 http://purl.bioontology.org/ontology/OMIM/MTHU010221 http://purl.bioontology.org/ontology/OMIM/MTHU047043 http://purl.bioontology.org/ontology/OMIM/MTHU047051 http://purl.bioontology.org/ontology/OMIM/MTHU037263 http://purl.bioontology.org/ontology/OMIM/MTHU005135 See more See less
tui	T047
Gene Locus	6q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615816
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4014371
Moved from	216920
OMIM Entry Type	3
OMIM MimType Value	pound

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