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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 IAGP ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar
OMIM
PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176
JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar PMID:27250922 NCBI chr 2:46,580,937...46,617,057
Ensembl chr 2:46,580,937...46,617,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19902
    Developmental Disease 13332
      bone development disease 1513
        Dwarfism 552
          SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
Path 2
Term Annotations click to browse term
  disease 19902
    Developmental Disease 13332
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10574
        genetic disease 10053
          monogenic disease 7635
            autosomal genetic disease 6540
              autosomal dominant disease 4448
                complex cortical dysplasia with other brain malformations 1252
                  Malformations of Cortical Development, Group I 1094
                    microcephaly 932
                      SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
paths to the root