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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 PMID:28708303 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Lamb-Shaffer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              Neurodevelopmental Disorders 4657
                Developmental Disabilities 689
                  Lamb-Shaffer Syndrome 1
paths to the root