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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:Sandestig-Stefanova syndrome
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Accession:DOID:0081272 term browser browse the term
Definition:A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: SANDSTEF
 broad_synonym: NUP188-related condition
 alt_id: DOID:9008661
 xref: MIM:618804;   MONDO:0032926


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Sandestig-Stefanova syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: NUP188-related condition | ClinVar Annotator: match by term: Sandestig-stefanova syndrome OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32021605 PMID:32275884 NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Sandestig-Stefanova syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10303
              autosomal recessive disease 6945
                Sandestig-Stefanova syndrome 1
paths to the root