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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: MIM:615969


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-fetoprotein deficiency		 OMIM
CTD
ClinVar		 PMID:18854864 PMID:25741868 NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          Alpha-Fetoprotein Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          inherited metabolic disorder 6608
            Alpha-Fetoprotein Deficiency 1
paths to the root