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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 ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9536098 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7527413 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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 ISS
ISO
OMIM:238320
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I
MouseDO
ClinVar
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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 More... NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
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 More... NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      endocrine system disease 6220
        gonadal disease 1072
          disorder of sexual development 205
            pseudohermaphroditism 6
              17-beta hydroxysteroid dehydrogenase 3 deficiency + 3
              Leydig cell hypoplasia + 1
              persistent Mullerian duct syndrome 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Urogenital Abnormalities 376
            disorder of sexual development 205
              pseudohermaphroditism 6
                17-beta hydroxysteroid dehydrogenase 3 deficiency + 3
                Leydig cell hypoplasia + 1
                persistent Mullerian duct syndrome 2
paths to the root