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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 GTF2A1L general transcription factor IIA subunit 1 like ISO ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I ClinVar PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr10:50,488,530...50,533,526
Ensembl chr10:50,488,530...50,533,516
JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I ClinVar PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14720
    disease of anatomical entity 14396
      Urogenital Diseases 4185
        Urogenital Abnormalities 358
          disorder of sexual development 198
            pseudohermaphroditism 7
              Leydig cell hypoplasia 2
                Leydig cell hypoplasia type I 2
Path 2
Term Annotations click to browse term
  disease 14720
    Developmental Disease 11907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10618
        Congenital Abnormalities 6527
          Urogenital Abnormalities 358
            disorder of sexual development 198
              46, XY Disorders of Sex Development 63
                Leydig cell hypoplasia 2
                  Leydig cell hypoplasia type I 2
paths to the root