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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;   STAMBP-RELATED CONDITION
 primary_id: OMIM:614261
 xref: NCI:C192098


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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 term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Microcephaly-Capillary Malformation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      Microcephaly-Capillary Malformation Syndrome 1
paths to the root