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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:24656866, PMID:25432320, PMID:25471517, PMID:25741868, PMID:26467025, PMID:26869582, PMID:28492532 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Anatomical Pathological Conditions 1525
        Atrophy 98
          Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.