Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620983 http://purl.bioontology.org/ontology/OMIM/620983
Preferred Name	IMMUNODEFICIENCY 128
Synonyms	IMD128
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD128
prefLabel	IMMUNODEFICIENCY 128
Gene Symbol	IMD128 COPG1
Scope Statement	Caused by mutation in the coatomer protein complex, subunit gamma-1 gene (COPG1, 615525.0001) [MOLECULAR BASIS] One consanguineous Omani family has been reported (last curated October 2024) [MISCELLANEOUS] Onset in the first year of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075133 http://purl.bioontology.org/ontology/OMIM/MTHU067436 http://purl.bioontology.org/ontology/OMIM/MTHU079233 http://purl.bioontology.org/ontology/OMIM/MTHU067762 http://purl.bioontology.org/ontology/OMIM/MTHU044793 http://purl.bioontology.org/ontology/OMIM/MTHU079115 http://purl.bioontology.org/ontology/OMIM/MTHU079231 http://purl.bioontology.org/ontology/OMIM/MTHU079235 http://purl.bioontology.org/ontology/OMIM/MTHU079232 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU033967 http://purl.bioontology.org/ontology/OMIM/MTHU043669 http://purl.bioontology.org/ontology/OMIM/MTHU079234 http://purl.bioontology.org/ontology/OMIM/MTHU037263 See more See less
tui	T047
Gene Locus	3q21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620983
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5975463
OMIM Entry Type	3
OMIM MimType Value	pound

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