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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: MIM: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 OMIM
ClinVar		 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 19102
    syndrome 11271
      Microcephaly-Capillary Malformation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10302
              autosomal dominant disease 6647
                complex cortical dysplasia with other brain malformations 1634
                  Malformations of Cortical Development, Group I 1394
                    microcephaly 1143
                      Microcephaly-Capillary Malformation Syndrome 1
paths to the root