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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 9 with or without anosmia
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Accession:DOID:0090085 term browser browse the term
Definition:A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH9;   NSMF-RELATED CONDITION
 primary_id: OMIM:614838


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hypogonadotropic hypogonadism 9 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition		 OMIM
CTD
ClinVar		 PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      Olfaction Disorders 24
        hypogonadotropic hypogonadism 9 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                hypogonadotropic hypogonadism 9 with or without anosmia 1
paths to the root