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ONTOLOGY REPORT - ANNOTATIONS


Term:SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
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Accession:DOID:9004904 term browser browse the term
Synonyms:primary_id: OMIM:615789;   RDO:9001278
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SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:7240710
RGD:8554872
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F JBrowse link 6 10,565,841 10,593,972 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      bone development disease 1001
        Dwarfism 309
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          monogenic disease 4684
            autosomal genetic disease 3642
              autosomal dominant disease 2153
                complex cortical dysplasia with other brain malformations 484
                  Malformations of Cortical Development, Group I 340
                    microcephaly 212
                      SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.