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Mayer-Rokitansky-Kuster-Hauser syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Mayer-Rokitansky-Kuster-Hauser syndrome
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Accession:EFO:MONDO:0017771 term browser browse the term
Definition:Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
Synonyms:exact_synonym: DOID:0112177;   MRKH;   MRKH syndrome;   Mullerian aplasia/dysgenesis;   NCIT:C124853;   Orphanet:3109;   Rokitansky Kuster Hauser syndrome;   Rokitansky syndrome;   http://identifiers.org/medgen/140915;   http://identifiers.org/snomedct/8793008;   http://linkedlifedata.com/resource/umls/id/C0431648
 synonym: http://identifiers.org/meddra/10065148
 related_synonym: Mayer-Rokitansky-Küster-Hauser syndrome
 alt_id: MONDO:0017771
 xref: DOID:0112177;   GARD:5445;   MEDGEN:140915;   MedDRA:10065148;   NCI:C124853;   NORD:1412;   ORDO:3109;   SCTID:8793008;   UMLS:C0431648

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Mayer-Rokitansky-Kuster-Hauser syndrome 0
              Mayer-Rokitansky-Kuster-Hauser syndrome type 1 0
              Mayer-Rokitansky-Küster-Hauser syndrome type 2 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          reproductive system disease 0
            female reproductive system disease 0
              mullerian aplasia 0
                partial bilateral aplasia of the mullerian ducts 0
                  Mayer-Rokitansky-Kuster-Hauser syndrome 0
                    Mayer-Rokitansky-Kuster-Hauser syndrome type 1 0
                    Mayer-Rokitansky-Küster-Hauser syndrome type 2 0
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