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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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: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.
Synonyms:exact_synonym: MINDS syndrome;   SKS;   macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism;   macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
 broad_synonym: NEURODEVELOPMENTAL DISORDER, MTOR RELATED
 primary_id: OMIM:616638
 xref: EFO:0009050


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Smith-Kingsmore Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MINDS SYNDROME | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21210909 PMID:23322780 PMID:23636326 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Smith-Kingsmore Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Urogenital Diseases 4934
        Female Urogenital Diseases and Pregnancy Complications 2349
          Female Urogenital Diseases 1942
            female reproductive system disease 1940
              prolapse of female genital organ 176
                enterocele 176
                  Abdominal Hernia 24
                    Ventral Hernia 14
                      umbilical hernia 12
                        Smith-Kingsmore Syndrome 1
paths to the root