Enterokinase deficiency

Preferred Label : Enterokinase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Enteropeptidase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #226200;

Details

Origin ID

226200;

UMLS CUI

C0268416;

Automatic exact mappings (from CISMeF team)
- enterokinase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Congenital enteropathy due to enteropeptidase deficiency [ORDO Disease]
- Deficiency of enteropeptidase (disorder) [SNOMED CT concept]
- Enterokinase deficiency (disorder) [SNOMED CT concept]
- enterokinase deficiency [MeSH concept]
- enterokinase deficiency [MeSH Supplementary Concept]
DO Cross reference
- enterokinase deficiency [DO Concept]
Genes related to phenotype
- Transmembrane protease, serine 15 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Hypoproteinemia [HPO term]
- Hypoproteinemic edema [HPO term]
ORDO concept(s)
- Congenital enteropathy due to enteropeptidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital enteropathy due to enteropeptidase deficiency [ORDO Disease]
- Deficiency of enteropeptidase (disorder) [SNOMED CT concept]
- Enterokinase deficiency (disorder) [SNOMED CT concept]
- Intestinal enteropeptidase deficiency (disorder) [SNOMED CT concept]
- enterokinase deficiency [MeSH Supplementary Concept]
- enterokinase deficiency [MeSH concept]
- enterokinase deficiency [DO Concept]
- intestinal enteropeptidase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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