Mannose 6-phosphate receptor recognition defect, lebanese type

Preferred Label : Mannose 6-phosphate receptor recognition defect, lebanese type;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Phosphodiester glycoside deficiency;

Inheritance : Autosomal dominant; homozygotes expected to have I-cell disease;

Prefixed ID : %154570;

Détails

Origin ID

154570;

UMLS CUI

C1835134;

Currated CISMeF NLP mapping
- mannose 6-Phosphate receptor recognition defect, lebanese type [MeSH concept]
- mannose 6-Phosphate receptor recognition defect, lebanese type [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of lysosomal metabolism [HPO term]
- Autosomal dominant inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mannose 6-Phosphate receptor recognition defect, lebanese type [MeSH Supplementary Concept]
- mannose 6-Phosphate receptor recognition defect, lebanese type [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients