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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:Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
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Accession:DOID:9005840 term browser browse the term
Synonyms:exact_synonym: MGCPH
 primary_id: OMIM:248000;   RDO:9000672
For additional species annotation, visit the Alliance of Genome Resources.


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Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d7 TBC1 domain family, member 7 ISO ClinVar Annotator: match by term: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive
ClinVar PMID:23687350 PMID:24515783 PMID:25741868 NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        Musculoskeletal Abnormalities 2238
          Craniofacial Abnormalities 1960
            Macrocephaly 68
              Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1054
                    Macrocephaly 68
                      Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive 1
paths to the root