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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
 primary_id: OMIM:614838
 alt_id: RDO:9000144
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:614838
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia
OMIM
ClinVar
PMID:15362570, PMID:17235395, PMID:21700882, PMID:25741868 NCBI chr 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        gonadal disease 901
          hypogonadism 120
            hypogonadotropic hypogonadism 40
              hypogonadotropic hypogonadism 9 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                hypogonadotropic hypogonadism 9 with or without anosmia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.