Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial lipase maturation factor 1 deficiency
go back to main search page
Accession:DOID:0111422 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency;   Lpl And Hl Deficiency;   Lpl And Htgl Deficiency;   combined lipase deficiency;   familial LMF1 deficiency
 primary_id: MESH:C535904
 alt_id: OMIM:246650
 xref: NCI:C126558;   ORDO:535453
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Lipase deficiency, combined OMIM
ClinVar
PMID:17994020 PMID:19820022 PMID:22239554 PMID:25741868 PMID:28492532 More... NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        lipid metabolism disorder 1157
          familial hyperlipidemia 311
            familial chylomicronemia syndrome 5
              familial lipase maturation factor 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lipid metabolism disorder 1157
              Dyslipidemias 340
                familial hyperlipidemia 311
                  familial chylomicronemia syndrome 5
                    familial lipase maturation factor 1 deficiency 1
paths to the root