Lipase deficiency, combined

Preferred Label : Lipase deficiency, combined;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; Lpl and hl deficiency; Lpl and htgl deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #246650;

Details

Origin ID

246650;

UMLS CUI

C1855498;

Automatic exact mappings (from CISMeF team)
- familial lipase maturation factor 1 deficiency [DO Concept]
Currated CISMeF NLP mapping
- Combined Lipase Deficiency [NCIt concept]
- Lipase deficiency combined [MeSH concept]
- lipase deficiency combined [MeSH Supplementary Concept]
DO Cross reference
- familial lipase maturation factor 1 deficiency [DO Concept]
Genes related to phenotype
- Lipase maturation factor 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypertriglyceridemia [HPO term]
- Lipodystrophy [HPO term]
- Pancreatitis [HPO term]
- Tuberous xanthoma [HPO term]
- Type II diabetes mellitus [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Familial lipase maturation factor 1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Lipase Deficiency [NCIt concept]
- Lipase deficiency combined [MeSH concept]
- lipase deficiency combined [MeSH Supplementary Concept]

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