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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:Norum disease
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Accession:DOID:1391 term browser browse the term
Definition:An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
Synonyms:exact_synonym: FED;   Fish Eye Disease;   LCAT deficiency;   LCAT-RELATED CONDITION;   LCATA Deficiencies;   LCATA Deficiency;   alpha LCAT deficiency;   alpha Lecithin Cholesterol Acyltransferase Deficiency;   dyslipoproteinemic corneal dystrophy;   lecithin acyltransferase deficiency;   lecithin cholesterol acyltransferase deficiency
 related_synonym: APOLIPOPROTEIN A-I (GIESSEN)
 primary_id: MESH:D007863
 alt_id: OMIM:136120;   OMIM:245900
 xref: ICD10CM:E78.6;   NCI:C84813
For additional species annotation, visit the Alliance of Genome Resources.


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Norum disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Lcat lecithin cholesterol acyltransferase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:245900
ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: Norum disease		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... RGD:1581778 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231 		JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          hypolipoproteinemia 18
            Norum disease 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lipid metabolism disorder 1735
              Dyslipidemias 395
                hypolipoproteinemia 18
                  Hypoalphalipoproteinemias 6
                    Norum disease 3
paths to the root