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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: AMHR2-RELATED CONDITION;   FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE;   PMDS;   Persistent M?llerian Duct Syndrome;   Persistent mullerian duct syndrome, types 1 and 2;   hernia uteri inguinale;   persistent Muellerian duct syndrome;   persistent Mullerian duct syndrome, types I and II;   persistent oviduct syndrome;   pseudohermaphroditism, male internal
 narrow_synonym: AMH-RELATED CONDITION;   Persistent Mullerian duct syndrome, type I;   Persistent Mullerian duct syndrome, type II
 primary_id: MESH:C536665
 alt_id: MIM:261550;   OMIA:000791
 xref: GARD:8435;   MONDO:0009857;   NCI:C120188;   ORDO:2856


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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 IAGP
EXP		 ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
ClinVar Annotator: match by term: AMH-related condition
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 More... NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073 		JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
ClinVar Annotator: match by term: AMHR2-related condition
ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
OMIM:261550
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 More... NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672 		JBrowse link
G LOC108783649 AMH 5' regulatory region IAGP ClinVar Annotator: match by term: AMH-related condition ClinVar PMID:8162013 PMID:22188863 PMID:28492532 PMID:37004205 NCBI chr19:2,246,334...2,249,405 JBrowse link
G LOC130063038 ATAC-STARR-seq lymphoblastoid silent region 9776 IAGP ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome		 ClinVar PMID:1483695 NCBI chr19:2,250,646...2,250,705 JBrowse link
G MIR4321 microRNA 4321 IAGP ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
ClinVar Annotator: match by term: Persistent Mullerian duct syndrome		 ClinVar PMID:1483695 NCBI chr19:2,250,639...2,250,718
Ensembl chr19:2,250,639...2,250,718 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    syndrome 29823
      persistent Mullerian duct syndrome 5
Path 2
Term Annotations click to browse term
  disease 97387
    Developmental Disease 35248
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28731
        Congenital Abnormalities 15093
          Urogenital Abnormalities 600
            disorder of sexual development 298
              pseudohermaphroditism 13
                persistent Mullerian duct syndrome 5
paths to the root