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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 16092
    syndrome 7036
      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 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Urogenital Abnormalities 256
            disorder of sexual development 151
              46, XY Disorders of Sex Development 41
                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