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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:Lamb-Shaffer Syndrome
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Accession:DOID:9002383 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. (OMIM)
Synonyms:related_synonym: LAMSHF
 primary_id: OMIM:616803
 alt_id: RDO:9000386

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Lamb-Shaffer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Lamb-Shaffer syndrome OMIM
ClinVar		 PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 More... NCBI chrNW_004936548:3,213,305...3,599,876
Ensembl chrNW_004936548:3,213,466...3,599,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Lamb-Shaffer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              Neurodevelopmental Disorders 6302
                Developmental Disabilities 754
                  Lamb-Shaffer Syndrome 1
paths to the root