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

ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9005920;   OMIM:246650;   RDO:0001269
 xref: ORDO:535453
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
familial lipase maturation factor 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmf1 lipase maturation factor 1 JBrowse link 10 14,945,185 15,031,855 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        lipid metabolism disorder 740
          familial hyperlipidemia 260
            familial chylomicronemia syndrome 5
              familial lipase maturation factor 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lipid metabolism disorder 740
              Dyslipidemias 281
                familial hyperlipidemia 260
                  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.