Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.