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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:persistent Mullerian duct syndrome
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Accession:DOID:0050791 term browser browse the term
Definition:A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO)
Synonyms:exact_synonym: FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE;   PMDS;   Persistent Mullerian Duct Syndrome, Types I And II;   Persistent Müllerian Duct Syndrome;   Persistent mullerian duct syndrome, types 1 and 2;   Persistent oviduct syndrome;   hernia uteri inguinale;   persistent Muellerian duct syndrome;   pseudohermaphroditism, male internal
 narrow_synonym: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I;   PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
 primary_id: MESH:C536665
 alt_id: OMIA:000791;   OMIM:261550;   RDO:0002309
 xref: GARD:8435;   NCI:C120188
For additional species annotation, visit the Alliance of Genome Resources.


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persistent Mullerian duct syndrome term browser
Symbol Object Name 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, type II
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
OMIM
ClinVar
PMID:7493017, PMID:8872466, PMID:11549681, PMID:19457927 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 16058
    syndrome 6996
      persistent Mullerian duct syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            disorder of sexual development 181
              pseudohermaphroditism 4
                persistent Mullerian duct syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.