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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:27876694 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            Maleylacetoacetate Isomerase Deficiency 1
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
            amino acid metabolic disorder 433
              Maleylacetoacetate Isomerase Deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.