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GENE - TERM ANNOTATION REPORT

RGD ID: 12703574
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Amh
Name: anti-Mullerian hormone
Acc ID: DOID:0050791
Term: persistent Mullerian duct syndrome
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)
Definition Source(s): http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome "DO" "DO", http://omim.org/entry/261550?search=261550&highlight=261550 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20352001 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Amh ISOAMH (Homo sapiens)7240710OMIM  
Amh ISOAMH (Homo sapiens)8554872ClinVarClinVar 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 IPMID:11760020 PMID:1483695 PMID:1809231 PMID:2023927 PMID:22188863 PMID:24033266 PMID:2562843 PMID:25741868 PMID:28492532 PMID:28505284 PMID:28528332 PMID:30668521 PMID:30786001 PMID:31277073 PMID:31291191 PMID:32172781 PMID:37004205 PMID:8162013
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