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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 CYB5A on chromosome 18q22.3. (DO)
Synonyms:exact_synonym: 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;   OMIM:250790
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: ISOLATED 17,20-LYASE DEFICIENCY, PURE OMIM
ClinVar
PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital hemolytic anemia 176
        hemoglobinopathy 133
          methemoglobinemia 6
            methemoglobinemia and ambiguous genitalia 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            normocytic anemia 223
              hemolytic anemia 223
                congenital hemolytic anemia 176
                  hemoglobinopathy 133
                    methemoglobinemia 6
                      methemoglobinemia and ambiguous genitalia 1
paths to the root