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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;   OVERGROWTH SYNDROME;   SKS;   macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism;   macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
 broad_synonym: MTOR-RELATED CONDITION;   NEURODEVELOPMENTAL DISORDER, MTOR RELATED
 primary_id: MIM: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: MTOR-related condition | 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: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome OMIM
ClinVar		 PMID:17360675 PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 More... NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Overgrowth syndrome ClinVar PMID:25741868 NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Smith-Kingsmore Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      Urogenital Diseases 5402
        Female Urogenital Diseases and Pregnancy Complications 2679
          Female Urogenital Diseases 2195
            female reproductive system disease 2192
              prolapse of female genital organ 191
                enterocele 191
                  Abdominal Hernia 31
                    Ventral Hernia 22
                      umbilical hernia 20
                        Smith-Kingsmore Syndrome 3
paths to the root