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


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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 OMIM:613668
ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy
OMIM
ClinVar
PMID:18414213, PMID:20950787, PMID:25741868 NCBI chr 8:13,522,257...13,835,302
Ensembl chr 8:13,819,563...13,835,168
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    physical disorder 996
      congenital nervous system abnormality 544
        microcephaly 438
          infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 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.