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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:25326635 PMID:25741868 PMID:26608784 PMID:26940245 PMID:28492532 PMID:30121372 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Pathological Conditions, Signs and Symptoms 8822
      Pathologic Processes 6194
        Growth Disorders 323
          Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group III 26
                    Polymicrogyria 15
                      Microcephaly, Short Stature, and Polymicrogyria with or without Seizures 1
paths to the root