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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:Alpha-Fetoprotein Deficiency
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Accession:DOID:9001493 term browser browse the term
Synonyms:exact_synonym: AFPD
 primary_id: MESH:C566300
 alt_id: OMIM:615969;   RDO:0014694
For additional species annotation, visit the Alliance of Genome Resources.



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Alpha-Fetoprotein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha-fetoprotein ISO ClinVar Annotator: match by term: Alpha-fetoprotein deficiency OMIM
ClinVar
PMID:18854864 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Alpha-Fetoprotein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Alpha-Fetoprotein Deficiency 1
paths to the root