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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 OMIM:238320
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8281137 PMID:8559204 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9514160 PMID:9626144 PMID:9703386 PMID:12356766 PMID:16887451 PMID:21490077 PMID:23686864 PMID:23861372 PMID:25741868 PMID:26040673 PMID:26467025 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
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 ISO
ISS
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1
OMIM:238320
ClinVar Annotator: match by term: LEYDIG CELL HYPOPLASIA, COMPLETE
ClinVar
MouseDO
PMID:7527413 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8281137 PMID:8559204 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9514160 PMID:9626144 PMID:9703386 PMID:9817592 PMID:11849253 PMID:12050206 PMID:12356766 PMID:15372531 PMID:15472221 PMID:16123233 PMID:16887451 PMID:21490077 PMID:23686864 PMID:23861372 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26467025 PMID:28492532 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
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 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Urogenital Abnormalities 324
          disorder of sexual development 162
            pseudohermaphroditism 5
              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 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Urogenital Abnormalities 324
            disorder of sexual development 162
              46, XY Disorders of Sex Development 46
                Leydig cell hypoplasia 1
                  Leydig cell hypoplasia type I 1
                  Leydig cell hypoplasia type II 1
paths to the root