Anemia, congenital, nonspherocytic hemolytic, 6

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 6;

Symbol : CNSHA6;

CISMeF acronym : GSSDE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GSSDE; Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to;

Description : Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130).;

Inheritance : Autosomal recessive;

Prefixed ID : #231900;

Détails

Origin ID

231900;

UMLS CUI

C1856399;

Broader ORDO disease(s)
- Glutathione synthetase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Haemolytic anaemia due to glutathione synthetase deficiency [ICD-11 More detail]
- glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [MeSH concept]
DO Cross reference
- glutathione synthetase deficiency [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Glyoxalase deficiency [HPO term]
- Hemolytic anemia [HPO term]
- Reduced glutathione synthetase level [HPO term]
ORDO concept(s)
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency without 5-oxoprolinuria [ORDO Disease]
See also inter- (CISMeF)
- Hemolytic anemia due to glutathione reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutathione synthetase deficiency without 5-oxoprolinuria [ORDO Disease]
- Haemolytic anaemia due to glutathione synthetase deficiency [ICD-11 More detail]
- glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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