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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: EFO:0005579;   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 chr17:1,032,958...1,064,283
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 6:11,415,361...11,480,834
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 Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS
ClinVar Annotator: match by term: HSD17B3-related condition | ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
OMIM:264300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chr17:1,032,958...1,064,283
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 chr12:19,043,004...19,065,686
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:18796626 PMID:20301500 PMID:20301541 PMID:28492532 More... NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO
ISS
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency
OMIM:261515
DNA:mutations:multiple (human)
ClinVar
MouseDO
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:45,515,427...45,604,467
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:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 More... NCBI chr 6:11,415,361...11,480,834
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 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 6:11,415,361...11,480,834
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 6:11,415,361...11,480,834
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
OMIM
CTD
ClinVar
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 More... NCBI chr 7:9,557,451...9,559,867
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO
ISS
ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
OMIM:261550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 More... NCBI chr 7:135,454,517...135,470,183
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 19141
    disease of anatomical entity 18453
      endocrine system disease 7037
        gonadal disease 1390
          disorder of sexual development 240
            pseudohermaphroditism 8
              17-beta hydroxysteroid dehydrogenase 3 deficiency + 5
              Leydig cell hypoplasia + 1
              persistent Mullerian duct syndrome 2
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        Congenital Abnormalities 7887
          Urogenital Abnormalities 461
            disorder of sexual development 240
              pseudohermaphroditism 8
                17-beta hydroxysteroid dehydrogenase 3 deficiency + 5
                Leydig cell hypoplasia + 1
                persistent Mullerian duct syndrome 2
paths to the root