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:Apolipoprotein A-I, Deficiency of
go back to main search page
Accession:DOID:9006651 term browser browse the term
Synonyms:exact_synonym: APOA1 Deficiency;   Apolipoprotein A-I Deficiency;   CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY
 narrow_synonym: Apolipoprotein a-i, absence of, due to deletion of apoa1/apoc3/apoa4 gene complex
 primary_id: OMIM:107680;   RDO:9000177
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Apolipoprotein A-I, Deficiency of 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 deficiency
ClinVar Annotator: match by term: Apolipoprotein A-I deficiency
ClinVar Annotator: match by term: Corneal clouding due to apolipoprotein a-i deficiency
OMIM
ClinVar
PMID:1898657, PMID:1901417, PMID:2506176, PMID:2512329, PMID:6800349, PMID:7981179, PMID:9514407 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          Apolipoprotein A-I, Deficiency of 1
            ApoA-I and ApoC-III Deficiency, Combined 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Apolipoprotein A-I, Deficiency of 1
                ApoA-I and ApoC-III Deficiency, Combined 0
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.