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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Sox5 SRY-box transcription factor 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Lamb-Shaffer Syndrome 1
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              Neurodevelopmental Disorders 4095
                Developmental Disabilities 373
                  Lamb-Shaffer Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.