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ONTOLOGY REPORT - ANNOTATIONS


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: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES;   PMGYS;   Polymicrogyria with Seizures
 primary_id: OMIM:614833;   RDO:9000649
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 JBrowse Chr Start Stop Reference
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        Dwarfism 308
          MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group III 22
                    Polymicrogyria 16
                      MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.