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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 23 with or without anosmia
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Accession:DOID:0090091 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: 46,XY DSD due to LHB deficiency;   46,XY DSD due to luteinizing hormone subunit beta deficiency;   46,XY disorder of sex development due to LHB deficiency;   46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency;   HH23;   HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA;   Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency;   Pasqualini syndrome;   fertile eunuch syndrome;   leydig cell hypoplasia due to LHB deficiency
 primary_id: MESH:C537919
 alt_id: OMIM:228300
 xref: ICD10CM:Q56.1;   ORDO:325448
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by OMIM:228300
ClinVar Annotator: match by term: PASQUALINI SYNDROME
OMIM
ClinVar
PMID:429481 PMID:1727547 PMID:15602022 PMID:17761593 PMID:19126631 PMID:19890128 PMID:22723313 PMID:25741868 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    syndrome 7758
      hypogonadotropic hypogonadism 23 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          monogenic disease 6660
            autosomal genetic disease 5814
              autosomal recessive disease 3286
                hypogonadotropic hypogonadism 23 with or without anosmia 1
paths to the root