ONTOLOGY REPORT - ANNOTATIONS


Term:Mullerian Aplasia
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Accession:DOID:9002039 term browser browse the term
Synonyms:exact_synonym: Klippel-Feil deformity, conductive deafness, and absent vagina;   MRK ANOMALY;   MRKH ANOMALY;   MRKH SYNDROME;   MRKH, Type II;   MULLERIAN APLASIA/DYSGENESIS;   MURCS association;   Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies;   Mullerian duct failure;   RKH syndrome;   Rokitansky Kuster Hauser syndrome;   Rokitansky sequence;   UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA;   VON MAYER-ROKITANSKY-KUSTER ANOMALY
 narrow_synonym: APLASIA OF THE UTERUS;   CAUV UROGENITAL ADYSPLASIA;   CONGENITAL ABSENCE OF UTERUS AND VAGINA;   Mayer Rokitansky Kuster Hauser Syndrome;   Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II
 primary_id: MESH:C537371;   OMIM:277000;   RDO:0003203
 alt_id: RDO:0008523
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Mullerian Aplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:8554872

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Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Mullerian Aplasia 2
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Urogenital Abnormalities 247
            sex development disorder 116
              46, XX Disorders of Sex Development 30
                Mullerian Aplasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.