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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant microcephaly
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Accession:DOID:14725 term browser browse the term
Definition:A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. (DO)
Synonyms:exact_synonym: microcephaly with autosomal dominant inheritance
 primary_id: MESH:C537323
 alt_id: OMIM:156580
For additional species annotation, visit the Alliance of Genome Resources.


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primary autosomal dominant microcephaly 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdfy3 WD repeat and FYVE domain containing 3 JBrowse link 14 9,169,409 9,384,835 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    physical disorder 764
      congenital nervous system abnormality 328
        microcephaly 221
          autosomal dominant microcephaly 1
            primary autosomal dominant microcephaly 18 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                complex cortical dysplasia with other brain malformations 527
                  Malformations of Cortical Development, Group I 377
                    microcephaly 221
                      autosomal dominant microcephaly 1
                        primary autosomal dominant microcephaly 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.