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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Med17 mediator complex subunit 17 JBrowse link 8 13,522,257 13,835,302 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.