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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 and Microcephaly with Genital Anomalies
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Accession:DOID:9004567 term browser browse the term
Synonyms:exact_synonym: SSMGA
 primary_id: OMIM:618702
For additional species annotation, visit the Alliance of Genome Resources.



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Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar
PMID:25741868 PMID:29228025 NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Urogenital Abnormalities 376
          Short Stature and Microcephaly with Genital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Short Stature and Microcephaly with Genital Anomalies 1
paths to the root