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ONTOLOGY REPORT - ANNOTATIONS


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
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hypogonadotropic hypogonadism 9 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor JBrowse link 3 2,262,173 2,270,996 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      endocrine system disease 4819
        gonadal disease 858
          hypogonadism 111
            hypogonadotropic hypogonadism 36
              hypogonadotropic hypogonadism 9 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal dominant disease 2239
                hypogonadotropic hypogonadism 9 with or without anosmia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.