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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 type I
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Accession:DOID:0112260 term browser browse the term
Definition:A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3. (DO)
Synonyms:exact_synonym: 46,XY DSD due to complete LH receptor inactivation;   46,XY DSD due to complete LH resistance;   46,XY DSD due to complete luteinizing hormone receptor inactivation;   46,XY DSD due to complete luteinizing hormone resistance;   46,XY disorder of sex development due to complete LH receptor inactivation;   46,XY disorder of sex development due to complete LH resistance;   46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation;   46,XY disorder of sex development due to complete luteinizing hormone resistance;   LEYDIG HYPOPLASIA, TYPE I;   Leydig Cell Hypoplasia, Complete;   Leydig Cell Hypoplasia, Type 1;   Leydig cell hypoplasia due to complete LH receptor inactivation;   Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation;   Leydig cell hypoplasia due to complete luteinizing hormone resistance
 xref: ORDO:96265
For additional species annotation, visit the Alliance of Genome Resources.



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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 IAGP
IEA
ClinVar Annotator: match by term: Leydig hypoplasia, type I
OMIM:238320
ClinVar Annotator: match by term: LEYDIG CELL HYPOPLASIA, COMPLETE
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1
ClinVar
MouseDO
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
JBrowse link
G STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Leydig hypoplasia, type I
ClinVar Annotator: match by term: LEYDIG CELL HYPOPLASIA, COMPLETE
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1
ClinVar PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22089
    disease of anatomical entity 20653
      Urogenital Diseases 5257
        Urogenital Abnormalities 424
          disorder of sexual development 238
            pseudohermaphroditism 9
              Leydig cell hypoplasia 2
                Leydig cell hypoplasia type I 2
Path 2
Term Annotations click to browse term
  disease 22089
    Developmental Disease 16531
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14239
        Congenital Abnormalities 8585
          Urogenital Abnormalities 424
            disorder of sexual development 238
              46, XY Disorders of Sex Development 83
                Leydig cell hypoplasia 2
                  Leydig cell hypoplasia type I 2
paths to the root