Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/267500 http://purl.bioontology.org/ontology/OMIM/267500
Preferred Name	RETICULAR DYSGENESIS
Synonyms	RETICULAR DYSGENESIA DE VAAL DISEASE CONGENITAL ALEUKIA ALEUKOCYTOSIS HEMATOPOIETIC HYPOPLASIA, GENERALIZED SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RETICULAR DYSGENESIA DE VAAL DISEASE CONGENITAL ALEUKIA ALEUKOCYTOSIS HEMATOPOIETIC HYPOPLASIA, GENERALIZED SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA See more See less
prefLabel	RETICULAR DYSGENESIS
Gene Symbol	AK2
Scope Statement	Caused by mutation in the adenylate kinase-2 gene (AK2, 103020.0001) [MOLECULAR BASIS] Early death in the first few weeks of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009698 http://purl.bioontology.org/ontology/OMIM/MTHU008324 http://purl.bioontology.org/ontology/OMIM/MTHU078222 http://purl.bioontology.org/ontology/OMIM/MTHU009700 http://purl.bioontology.org/ontology/OMIM/MTHU009697 http://purl.bioontology.org/ontology/OMIM/MTHU006263 http://purl.bioontology.org/ontology/OMIM/MTHU009701 http://purl.bioontology.org/ontology/OMIM/MTHU009699 http://purl.bioontology.org/ontology/OMIM/MTHU000152 See more See less
tui	T047
Gene Locus	1p34
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	267500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0272167
OMIM Entry Type	3
OMIM MimType Value	pound

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