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ONTOLOGY REPORT - ANNOTATIONS


Term:MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
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Accession:DOID:9009244 term browser browse the term
Definition:An autosomal dominant syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients.
Synonyms:exact_synonym: MFRG
 primary_id: OMIM:618142
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MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctu2 cytosolic thiouridylase subunit 2 JBrowse link 19 55,300,531 55,305,543 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    physical disorder 748
      congenital nervous system abnormality 301
        microcephaly 209
          MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            complex cortical dysplasia with other brain malformations 424
              Malformations of Cortical Development, Group I 276
                microcephaly 209
                  MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.