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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 cysteine-rich PDZ-binding protein ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies
ClinVar Annotator: match by OMIM:615789
OMIM
ClinVar
PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 NCBI chr17:87,025,561...87,035,808
Ensembl chr17:87,025,550...87,035,810
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 chr17:86,997,259...87,025,401
Ensembl chr17:86,997,256...87,025,406
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14272
    Developmental Disease 10450
      bone development disease 1366
        Dwarfism 496
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
Path 2
Term Annotations click to browse term
  disease 14272
    Developmental Disease 10450
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8737
        genetic disease 8280
          monogenic disease 6335
            autosomal genetic disease 5494
              autosomal dominant disease 3755
                complex cortical dysplasia with other brain malformations 1169
                  Malformations of Cortical Development, Group I 1032
                    microcephaly 878
                      SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
paths to the root