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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:ALAD-Deficiency Porphyria
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Accession:DOID:9006693 term browser browse the term
Synonyms:exact_synonym: ADP;   ALA-dehydratase deficient porphyria;   ALAD Deficiency;   ALAD porphyria;   Delta-Aminolevulinate Dehydratase Deficiency;   Doss Porphyria;   Porphobilinogen Synthase Deficiency;   acute hepatic porphyria
 narrow_synonym: DOSS PORPHYRIA LEAD POISONING, SUSCEPTIBILITY TO;   PORPHYRIA, ACUTE HEPATIC, DIGENIC
 primary_id: MESH:C562618
 alt_id: OMIM:612740;   RDO:0012251
 xref: NCI:C133887
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
ALAD-Deficiency Porphyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic OMIM
ClinVar
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 More... NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        porphyria 23
          acute porphyria 19
            ALAD-Deficiency Porphyria 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            porphyria 23
              acute porphyria 19
                ALAD-Deficiency Porphyria 2
paths to the root