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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:Leydig cell hypoplasia
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Accession:DOID:0112259 term browser browse the term
Definition:A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3. (DO)
Synonyms:exact_synonym: 46,XY DSD due to LH resistance or LHB deficiency;   46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency;   46,XY Disorder of Sex Development Due To LH Defects;   46,XY disorder of sex development due to LH resistance or LHB deficiency;   46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency;   LH Resistance Due To LH Receptor Deactivation;   Leydig Cell Agenesis;   Leydig Cell Hypoplasia with Male Pseudohermaphroditism;   Male Hypergonadotropic Hypogonadism Due To LHCGR Defect
 narrow_synonym: LUTEINIZING HORMONE RESISTANCE, FEMALE
 primary_id: MESH:C562567
 alt_id: DOID:9001157;   OMIM:238320
 xref: GARD:3244;   ORDO:755
For additional species annotation, visit the Alliance of Genome Resources.



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Leydig cell hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7527413 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
Leydig cell hypoplasia type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISS
ISO
OMIM:238320
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I
MouseDO
ClinVar
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
Leydig cell hypoplasia type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Leydig cell hypoplasia, type II ClinVar PMID:9215288 PMID:9626653 PMID:10852464 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Urogenital Abnormalities 376
          disorder of sexual development 205
            pseudohermaphroditism 6
              Leydig cell hypoplasia 1
                Leydig cell hypoplasia type I 1
                Leydig cell hypoplasia type II 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Urogenital Abnormalities 376
            disorder of sexual development 205
              46, XY Disorders of Sex Development 67
                Leydig cell hypoplasia 1
                  Leydig cell hypoplasia type I 1
                  Leydig cell hypoplasia type II 1
paths to the root