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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 5
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Accession:DOID:0070280 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: ASPM-RELATED CONDITION;   MCPH5
 narrow_synonym: primary autosomal recessive microcephaly 5 with simplified gyral pattern
 primary_id: MESH:C563871
 alt_id: MESH:C567221;   OMIM:608716



show annotations for term's descendants           Sort by:
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link

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 5 3
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 5 3
paths to the root