Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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: Lipase Deficiency Combined;   Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency;   Lpl And Hl Deficiency;   Lpl And Htgl 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 OMIM:246650
ClinVar Annotator: match by term: Lipase deficiency combined
OMIM
ClinVar
PMID:17994020, PMID:19820022, PMID:28492532 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        lipid metabolism disorder 900
          familial hyperlipidemia 268
            familial chylomicronemia syndrome 5
              familial lipase maturation factor 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lipid metabolism disorder 900
              Dyslipidemias 292
                familial hyperlipidemia 268
                  familial chylomicronemia syndrome 5
                    familial lipase maturation factor 1 deficiency 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.