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;   OMIM:616803
 primary_id: RDO:9000386
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LAMB-SHAFFER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox5 SRY box 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      LAMB-SHAFFER SYNDROME 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              Neurodevelopmental Disorders 2756
                Developmental Disabilities 342
                  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.