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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. (OMIM)
Synonyms:exact_synonym: MINDS syndrome;   SKS;   macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism;   macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
 primary_id: OMIM:616638
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Smith-Kingsmore Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Urogenital Diseases 4157
        Female Urogenital Diseases and Pregnancy Complications 1916
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Abdominal Hernia 33
                    Hernia, Ventral 13
                      umbilical hernia 11
                        Smith-Kingsmore Syndrome 1
paths to the root