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
Accession: DOID:9002112
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 .
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
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
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 PMID:15464432 PMID:15521979 PMID:15776424 PMID:16983147 PMID:18249054 PMID:24500076 PMID:25040602 PMID:25741868 PMID:27513191 PMID:28492532 More...
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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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 PMID:25326637 PMID:25356970 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29203834 PMID:29255178 PMID:29453417 PMID:29574747 PMID:30305169 PMID:32860008 More...
NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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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
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