ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
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Accession:DOID:9002795 term browser browse the term
Definition:A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)
Synonyms:exact_synonym: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY;   MSCCA
 primary_id: OMIM:615760
 alt_id: RDO:9001673
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Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qars glutaminyl-tRNA synthetase JBrowse link 8 117,297,670 117,305,708 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    physical disorder 746
      congenital nervous system abnormality 300
        microcephaly 209
          Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          eye and adnexa disease 1996
            eye disease 1996
              visual pathway disease 498
                visual cortex disease 497
                  visual epilepsy 497
                    Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.