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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:Maleylacetoacetate Isomerase Deficiency
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Accession:DOID:9007857 term browser browse the term
Definition:A disease characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. (OMIM)
Synonyms:exact_synonym: BENIGN HYPERSUCCINYLACETONEMIA;   BHSA;   MAAI DEFICIENCY;   MAAID;   MHSA;   MILD HYPERSUCCINYLACETONEMIA
 primary_id: OMIM:617596



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Maleylacetoacetate Isomerase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstz1 glutathione S-transferase zeta 1 ISO ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency OMIM
ClinVar
PMID:25741868 PMID:27876694 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            Maleylacetoacetate Isomerase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              Maleylacetoacetate Isomerase Deficiency 1
paths to the root