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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 the LHCGR gene 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
 broad_synonym: LHCGR-RELATED CONDITION
 primary_id: MESH:C562567
 alt_id: DOID:9001157;   MIM:238320
 xref: GARD:3244;   ORDO:755


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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 OMIM
ClinVar		 PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 More... NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		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 ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I ClinVar PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		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 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    disease of anatomical entity 15095
      Urogenital Diseases 4852
        Urogenital Abnormalities 441
          disorder of sexual development 230
            pseudohermaphroditism 8
              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 15426
    Developmental Disease 13487
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12610
        Congenital Abnormalities 7616
          Urogenital Abnormalities 441
            disorder of sexual development 230
              46, XY Disorders of Sex Development 84
                Leydig cell hypoplasia 1
                  Leydig cell hypoplasia type I 1
                  Leydig cell hypoplasia type II 1
paths to the root