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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 26 with or without Anosmia
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Accession:DOID:9002666 term browser browse the term
Definition:Characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Caused by heterozygous mutation in the TCF12 gene on chromosome 15q21.
Synonyms:exact_synonym: HH26
 narrow_synonym: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
 primary_id: OMIM:619718


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Hypogonadotropic Hypogonadism 26 with or without Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia OMIM
ClinVar		 PMID:23354436 PMID:25741868 PMID:28492532 PMID:32620954 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        gonadal disease 1212
          hypogonadism 205
            hypogonadotropic hypogonadism 67
              Hypogonadotropic Hypogonadism 26 with or without Anosmia 1
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