Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/230450 http://purl.bioontology.org/ontology/OMIM/230450
Preferred Name	ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 7
Synonyms	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO CNSHA7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO CNSHA7
prefLabel	ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 7
Gene Symbol	GLCLC CNSHA7 GCLC
Scope Statement	Caused by mutation in the glutamate-cysteine ligase, catalytic subunit gene (GCLC, 606857.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU003653 http://purl.bioontology.org/ontology/OMIM/MTHU012899 http://purl.bioontology.org/ontology/OMIM/MTHU012900 http://purl.bioontology.org/ontology/OMIM/MTHU012902 http://purl.bioontology.org/ontology/OMIM/MTHU012901 http://purl.bioontology.org/ontology/OMIM/MTHU000700 See more See less
tui	T047
Gene Locus	6p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	230450
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1856603
OMIM Entry Type	3
OMIM MimType Value	pound

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