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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 Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by OMIM:605130
ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
OMIM
ClinVar
PMID:18414213, PMID:22795537, PMID:24088041, PMID:25326635, PMID:25326637, PMID:25724810, PMID:25741868, PMID:25741869, PMID:25810209, PMID:26633545, PMID:27441994, PMID:29255178, PMID:32860008 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism ClinVar PMID:25574841 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
paths to the root

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