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RGD uses the Human Disease Ontology (DO, 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
PMID:22290657, PMID:23220431, PMID:23498568, PMID:25741868, PMID:26111154, PMID:27479843, PMID:28135719, PMID:28708303, PMID:29214085 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 16103
    syndrome 6989
      Lamb-Shaffer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              Neurodevelopmental Disorders 4554
                Developmental Disabilities 641
                  Lamb-Shaffer Syndrome 1
paths to the root


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