Hyperlysinemia due to defect in lysine transport into mitochondria

Preferred Label : Hyperlysinemia due to defect in lysine transport into mitochondria;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 238710;

Details

Origin ID

238710;

UMLS CUI

C1855927;

Currated CISMeF NLP mapping
- hyperlysinemia due to defect in lysine transport into mitochondria [MeSH concept]
- hyperlysinemia due to defect in lysine transport into mitochondria [MeSH Supplementary Concept]
DO Cross reference
- hyperlysinemia [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hyperlysinemia [HPO term]
- Intellectual disability [HPO term]
- Mitochondrial lysine transport defect [HPO term]
ORDO concept(s)
- Hyperlysinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hyperlysinemia due to defect in lysine transport into mitochondria [MeSH Supplementary Concept]
- hyperlysinemia due to defect in lysine transport into mitochondria [MeSH concept]

Keyword's position in hierarchy(ies) :

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