proprotein convertase 1 3 deficiency

Preferred Label : proprotein convertase 1 3 deficiency;

MeSH note : mutation in prohormone convertase-1;

MeSH synonym : obesity and endocrinopathy due to impaired processing of prohormones;

Details

Origin ID

C563423;

UMLS CUI

C1833053;

Automatic exact mappings (from CISMeF team)
- proprotein convertase 1/3 deficiency [DO Concept]
Currated CISMeF NLP mapping
- Obesity due to prohormone convertase I deficiency [ORDO Disease]
- Obesity due to prohormone convertase-1 deficiency [ICD-11 More detail]
- Proprotein convertase 1/3 deficiency [OMIM Phenotype]
DO Cross reference
- proprotein convertase 1/3 deficiency [DO Concept]
MeSH term(s) associated for indexing
- endocrine system diseases [MeSH Descriptor]
- obesity [MeSH Descriptor]
- proprotein convertase 1 [MeSH Descriptor]
Record concept(s)
- proprotein convertase 1 3 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Obesity due to prohormone convertase I deficiency [ORDO Disease]
- Proprotein convertase 1/3 deficiency [OMIM Phenotype]
- proprotein convertase 1/3 deficiency [DO Concept]
Validated automatic mappings to BTNT
- Obesity due to prohormone convertase I deficiency (disorder) [SNOMED CT concept]

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