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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:infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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Accession:DOID:0111262 term browser browse the term
Definition:A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. (DO)
Synonyms:exact_synonym: postnatal progressive microcephaly with seizures and brain atrophy;   postnatal progressive microcephaly, seizures, and brain atrophy
 primary_id: OMIM:613668
 alt_id: RDO:0009933
 xref: GARD:10995;   ORDO:402364


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infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 More... NCBI chr21:6,967,304...6,990,542
Ensembl chr21:6,967,481...6,990,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital nervous system abnormality 1487
        microcephaly 1121
          infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1
paths to the root