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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:23636326 PMID:24631838 PMID:25741868 PMID:25851998 PMID:26542245 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Smith-Kingsmore Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Female Urogenital Diseases 1836
            female reproductive system disease 1832
              prolapse of female genital organ 188
                enterocele 188
                  Abdominal Hernia 23
                    Hernia, Ventral 14
                      umbilical hernia 12
                        Smith-Kingsmore Syndrome 1
paths to the root