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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:Growth Deficiency and Mental Retardation with Facial Dysmorphism
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Accession:DOID:9002112 term browser browse the term
Synonyms:exact_synonym: WDSTS;   Wiedemann-Steiner syndrome;   hairy elbows, short stature, facial dysmorphism, and developmental delay
 primary_id: MESH:C565358
 alt_id: OMIM:605130
For additional species annotation, visit the Alliance of Genome Resources.



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Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:10677299 PMID:10896306 PMID:11175299 PMID:12270273 PMID:12818773 More... NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar
PMID:5519603 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Neurodevelopmental Disorders 6224
        intellectual disability 3995
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 5
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            autosomal genetic disease 7992
              autosomal dominant disease 5476
                complex cortical dysplasia with other brain malformations 1493
                  Malformations of Cortical Development, Group I 1343
                    microcephaly 1168
                      Growth Deficiency and Mental Retardation with Facial Dysmorphism 5
paths to the root