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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
 primary_id: OMIM:616541;   RDO:9001550
For additional species annotation, visit the Alliance of Genome Resources.


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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:26046366 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 NCBI chr 4:5,842,013...5,860,516
Ensembl chr 4:5,841,998...5,860,527
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction ClinVar
OMIM
PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:25742519 PMID:25839420 PMID:25872942 PMID:26255102 PMID:28492532 NCBI chr 2:18,674,496...18,927,463
Ensembl chr 2:18,677,220...18,927,365
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      endocrine system disease 5009
        SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group I 608
                    microcephaly 444
                      SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
paths to the root