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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 16058
    syndrome 6996
      Microcephaly-Capillary Malformation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Microcephaly-Capillary Malformation Syndrome 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.