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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:Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
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Accession:DOID:9003865 term browser browse the term
Definition:MSSP is caused by homozygous or compound heterozygous mutation in the RTTN gene on chromosome 18q22. (OMIM)
Synonyms:exact_synonym: MSSP
 narrow_synonym: PMGYS;   microcephaly, short stature, and polymicrogyria with seizures;   polymicrogyria with seizures
 primary_id: OMIM:614833
For additional species annotation, visit the Alliance of Genome Resources.



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Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by OMIM:614833
ClinVar Annotator: match by term: Polymicrogyria with seizures
ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
OMIM
ClinVar
PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 More... NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital nervous system abnormality 1043
        microcephaly 897
          Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group III 23
                    polymicrogyria 18
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
paths to the root