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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-Capillary Malformation Syndrome
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Accession:DOID:9004046 term browser browse the term
Synonyms:exact_synonym: MICCAP
 primary_id: OMIM:614261
For additional species annotation, visit the Alliance of Genome Resources.


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Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp Stam binding protein ISO ClinVar Annotator: match by OMIM:614261
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome
OMIM
ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Microcephaly-Capillary Malformation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group I 608
                    microcephaly 444
                      Microcephaly-Capillary Malformation Syndrome 1
paths to the root