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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, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
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Accession:DOID:9002620 term browser browse the term
Definition:In this syndrome short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. (OMIM)
Synonyms:exact_synonym: SSMED;   XRCC4-RELATED CONDITION
 primary_id: MIM:616541;   RDO:9001550



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SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction ClinVar PMID:11118202 PMID:22232082 PMID:25741868 PMID:26046366 PMID:26845104 More... NCBI chr 4:10,157,130...10,237,089
Ensembl chr 4:9,423,898...9,442,482
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition OMIM
ClinVar
PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 More... NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:20,951,200...21,197,808
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      endocrine system disease 7039
        SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
Path 2
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13716
        genetic disease 13381
          monogenic disease 10939
            autosomal genetic disease 10426
              autosomal dominant disease 6784
                complex cortical dysplasia with other brain malformations 1645
                  Malformations of Cortical Development, Group I 1401
                    microcephaly 1147
                      SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
paths to the root