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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRIPT CXXC repeat containing interactor of PDZ3 domain ISO OMIM NCBI chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463
JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar PMID:27250922 NCBI chr2A:46,696,543...46,732,625
Ensembl chr2A:47,627,376...47,663,272
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13618
    Developmental Disease 10037
      bone development disease 1329
        Dwarfism 471
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
Path 2
Term Annotations click to browse term
  disease 13618
    Developmental Disease 10037
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8360
        genetic disease 7912
          monogenic disease 6108
            autosomal genetic disease 5295
              autosomal dominant disease 3631
                complex cortical dysplasia with other brain malformations 1152
                  Malformations of Cortical Development, Group I 1017
                    microcephaly 866
                      SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
paths to the root