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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:pseudohermaphroditism
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Accession:DOID:3765 term browser browse the term
Synonyms:exact_synonym: indeterminate sex and pseudohermaphroditism
 xref: ICD10CM:Q56;   ICD10CM:Q56.3;   ICD9CM:752.7;   NCI:C124575
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
pseudohermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS
ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar
MouseDO
PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9758445 PMID:10599740 PMID:17509588 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25740850 PMID:25741868 PMID:30668521 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
ClinVar Annotator: match by term: 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:17509588 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:27290639 PMID:28492532, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Leydig cell hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT
ClinVar Annotator: match by OMIM:238320
OMIM
CTD
ClinVar
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 Qualifiers 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 Qualifiers 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
persistent Mullerian duct syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
OMIM
ClinVar
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:11760020 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
OMIM
ClinVar
PMID:7493017 PMID:8872466 PMID:11549681 PMID:19457927 PMID:24033266 PMID:25741868 NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      endocrine system disease 5792
        gonadal disease 1008
          disorder of sexual development 162
            pseudohermaphroditism 5
              17-beta hydroxysteroid dehydrogenase 3 deficiency + 2
              Leydig cell hypoplasia + 1
              persistent Mullerian duct syndrome 2
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
              pseudohermaphroditism 5
                17-beta hydroxysteroid dehydrogenase 3 deficiency + 2
                Leydig cell hypoplasia + 1
                persistent Mullerian duct syndrome 2
paths to the root