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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 3 with or without anosmia
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Accession:DOID:0090092 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH3
 narrow_synonym: Kallmann syndrome 3;   Kallmann syndrome type 3, recessive;   hypogonadotropic hypogonadism 3 without anosmia
 primary_id: OMIM:244200
 alt_id: RDO:9003766
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Kallmann syndrome 3
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia
OMIM
ClinVar
PMID:1855992, PMID:4276467, PMID:8954047, PMID:11259612, PMID:17054399, PMID:18559922, PMID:18682503, PMID:18723471, PMID:18826963, PMID:20022991, PMID:20696889, PMID:20981092, PMID:21209029, PMID:21247312, PMID:21858136, PMID:22035731, PMID:22319038, PMID:22399515, PMID:22466334, PMID:22745195, PMID:22773735, PMID:22927827, PMID:22995991, PMID:23082007, PMID:23200691, PMID:23386640, PMID:23533228, PMID:23596439, PMID:23643382, PMID:24031091, PMID:24276467, PMID:24753254, PMID:24830383, PMID:25226293, PMID:25678757, PMID:25741868, PMID:25759380, PMID:26031747, PMID:26467025, PMID:27168972, PMID:28492532, PMID:30311386 NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
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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 3 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
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            disorder of sexual development 181
              46, XY Disorders of Sex Development 42
                Kallmann syndrome 10
                  hypogonadotropic hypogonadism 3 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.