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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:Microcephaly-Micromelia Syndrome
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Accession:DOID:9002621 term browser browse the term
Synonyms:primary_id: MESH:C565382
 alt_id: OMIM:251230
For additional species annotation, visit the Alliance of Genome Resources.


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Microcephaly-Micromelia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly-micromelia syndrome OMIM
ClinVar
PMID:25741868 PMID:28191891 PMID:28492532 PMID:28630177 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Microcephaly-Micromelia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Microcephaly-Micromelia Syndrome 1
paths to the root