ONTOLOGY REPORT - ANNOTATIONS


Term:Smith-Kingsmore Syndrome
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Accession:DOID:9004356 term browser browse the term
Definition:A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip. (OMIM)
Synonyms:exact_synonym: MACROCEPHALY, SEIZURES, MENTAL RETARDATION, UMBILICAL HERNIA, AND FACIAL DYSMORPHISM;   SKS
 primary_id: OMIM:616638;   RDO:9001132
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Smith-Kingsmore Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Smith-Kingsmore Syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Female Urogenital Diseases and Pregnancy Complications 1644
          Female Urogenital Diseases 1396
            female reproductive system disease 1392
              prolapse of female genital organ 149
                enterocele 149
                  Abdominal Hernia 22
                    Hernia, Ventral 13
                      umbilical hernia 11
                        Smith-Kingsmore Syndrome 1
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