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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 2 with or without anosmia
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Accession:DOID:0090083 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)
Synonyms:exact_synonym: HH2;   KAL2;   Kallmann syndrome 2
 narrow_synonym: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
 related_synonym: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
 primary_id: OMIM:147950
 alt_id: RDO:9003769
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Kallmann syndrome 2
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
OMIM
ClinVar
PMID:6881209, PMID:7795583, PMID:7874169, PMID:10629055, PMID:10690855, PMID:10861678, PMID:10942429, PMID:11173846, PMID:12627230, PMID:14513299, PMID:14564217, PMID:14613973, PMID:15365636, PMID:15605412, PMID:15793702, PMID:16418210, PMID:16606836, PMID:16764984, PMID:16882753, PMID:16957473, PMID:17154279, PMID:17200176, PMID:17235395, PMID:17360555, PMID:17963255, PMID:18160472, PMID:18596921, PMID:18985070, PMID:19707180, PMID:19820032, PMID:20696889, PMID:21700882, PMID:22378383, PMID:23329143, PMID:23533228, PMID:23643382, PMID:23657145, PMID:24127277, PMID:24204987, PMID:24497711, PMID:24759409, PMID:25064402, PMID:25251565, PMID:25383892, PMID:25394172, PMID:25425165, PMID:25636053, PMID:25741868, PMID:25759380, PMID:26467025, PMID:26708526, PMID:26931467, PMID:27502037, PMID:28008864, PMID:28492532, PMID:28754744 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Kallmann syndrome 10
        hypogonadotropic hypogonadism 2 with or without anosmia 1
          Kallmann Syndrome 2 with Bimanual Synkinesia 0
          Kallmann Syndrome 2 with Cleft Lip or Palate 0
          Kallmann Syndrome 2 with Selective Tooth Agenesis 0
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            disorder of sexual development 181
              46, XY Disorders of Sex Development 42
                Kallmann syndrome 10
                  hypogonadotropic hypogonadism 2 with or without anosmia 1
                    Kallmann Syndrome 2 with Bimanual Synkinesia 0
                    Kallmann Syndrome 2 with Cleft Lip or Palate 0
                    Kallmann Syndrome 2 with Selective Tooth Agenesis 0
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.