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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:methemoglobinemia and ambiguous genitalia
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Accession:DOID:0112316 term browser browse the term
Definition:A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. (DO)
Synonyms:exact_synonym: CYB5A-RELATED CONDITION;   METAG;   methemoglobinemia due to deficiency of cytochrome B5;   methemoglobinemia type IV;   pure isolated 17,20-lyase deficiency
 primary_id: MESH:C567102
 alt_id: DOID:9005696;   MIM:250790


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methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5		 OMIM
CTD
ClinVar		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 More... NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    physical disorder 5194
      congenital hemolytic anemia 365
        hemoglobinopathy 248
          methemoglobinemia 6
            methemoglobinemia and ambiguous genitalia 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4344
        hematopoietic system disease 3835
          anemia 866
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  hemoglobinopathy 248
                    methemoglobinemia 6
                      methemoglobinemia and ambiguous genitalia 1
paths to the root