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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:Primary Autosomal Recessive Microcephaly 27
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Accession:DOID:9002951 term browser browse the term
Definition:Characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Caused by heterozygous mutation in the LMNB2 gene on chromosome 19p13. (OMIM)
Synonyms:exact_synonym: MCPH27
 related_synonym: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT
 primary_id: OMIM:619180



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Primary Autosomal Recessive Microcephaly 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant ClinVar
OMIM
PMID:25741868 PMID:33033404 NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    physical disorder 4941
      congenital nervous system abnormality 1482
        microcephaly 1122
          primary microcephaly 44
            primary autosomal recessive microcephaly 34
              Primary Autosomal Recessive Microcephaly 27 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                complex cortical dysplasia with other brain malformations 1583
                  Malformations of Cortical Development, Group I 1371
                    microcephaly 1122
                      primary microcephaly 44
                        primary autosomal recessive microcephaly 34
                          Primary Autosomal Recessive Microcephaly 27 1
paths to the root