Carboxypeptidase n deficiency

Preferred Label : Carboxypeptidase n deficiency;

Symbol : CPND;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #212070;

Détails

Origin ID

212070;

UMLS CUI

C0398782;

Automatic exact mappings (from CISMeF team)
- carboxypeptidase N deficiency [DO Concept]
Currated CISMeF NLP mapping
- Carboxypeptidase N Deficiency [NCIt concept]
- Deficiency of carboxypeptidase B (disorder) [SNOMED CT concept]
- carboxypeptidase N deficiency [Disease (Nov.)]
- carboxypeptidase N deficiency [MeSH concept]
- carboxypeptidase N deficiency [MeSH Supplementary Concept]
DO Cross reference
- carboxypeptidase N deficiency [DO Concept]
Genes related to phenotype
- Carboxypeptidase n, polypeptide 1, 50-kd [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skin [HPO term]
- Angioedema [HPO term]
- Autosomal recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anaphylotoxin inactivator deficiency (disorder) [SNOMED CT concept]
- Carboxypeptidase N Deficiency [NCIt concept]
- Deficiency of carboxypeptidase B (disorder) [SNOMED CT concept]
- carboxypeptidase N deficiency [MeSH Supplementary Concept]
- carboxypeptidase N deficiency [MeSH concept]
- carboxypeptidase N deficiency [Disease (Nov.)]
- carboxypeptidase N deficiency [DO Concept]
Validated automatic mappings to NTBT
- Anaphylotoxin inactivator deficiency (disorder) [SNOMED CT concept]

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

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