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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:29228025 NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Urogenital Diseases 4143
        Urogenital Abnormalities 256
          Short Stature and Microcephaly with Genital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal dominant disease 3032
                complex cortical dysplasia with other brain malformations 703
                  Malformations of Cortical Development, Group I 560
                    microcephaly 408
                      Short Stature and Microcephaly with Genital Anomalies 1
paths to the root