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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

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Path 1
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      endocrine system disease 4935
        gonadal disease 867
          hypogonadism 117
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 9 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                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.