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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:hypogonadotropic hypogonadism 21 with or without anosmia
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Accession:DOID:0090093 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH21
 primary_id: OMIM:615271


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hypogonadotropic hypogonadism 21 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      Olfaction Disorders 24
        hypogonadotropic hypogonadism 21 with or without anosmia 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                hypogonadotropic hypogonadism 21 with or without anosmia 2
paths to the root