ONTOLOGY REPORT - ANNOTATIONS


Term:MALEYLACETOACETATE ISOMERASE DEFICIENCY
go back to main search page
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;   RDO:9005172
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
MALEYLACETOACETATE ISOMERASE DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstz1 glutathione S-transferase zeta 1 JBrowse link 6 111,176,798 111,187,246 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            MALEYLACETOACETATE ISOMERASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              MALEYLACETOACETATE ISOMERASE DEFICIENCY 1
paths to the root

NHLBI Logo

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