Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
go back to main search page
Accession:DOID:9000359 term browser browse the term
Definition:This disease is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable.
Synonyms:exact_synonym: CONPM;   childhood-onset neurodegeneration with progressive microcephaly
 primary_id: OMIM:619847



show annotations for term's descendants           Sort by:
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly OMIM
ClinVar
PMID:31271740 PMID:34918187 PMID:34926941 NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        neurodegenerative disease 4873
          NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY 1
Path 2
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            autosomal genetic disease 9422
              autosomal dominant disease 6189
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1370
                    microcephaly 1122
                      NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY 1
paths to the root