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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Smith-Kingsmore Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Urogenital Diseases 3981
        Female Urogenital Diseases and Pregnancy Complications 1725
          Female Urogenital Diseases 1466
            female reproductive system disease 1462
              prolapse of female genital organ 152
                enterocele 152
                  Abdominal Hernia 22
                    Hernia, Ventral 13
                      umbilical hernia 11
                        Smith-Kingsmore Syndrome 1
paths to the root

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