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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:cleft palate, cardiac defects, and intellectual disabillity
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Accession:DOID:0111697 term browser browse the term
Definition:A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: CPCMR;   Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies;   cleft palate, cardiac defects, and impaired intellectual development;   cleft palate, cardiac defects, and mental retardation
 broad_synonym: MEIS2-related disorder
 primary_id: MESH:C563414
 alt_id: OMIM:600987



show annotations for term's descendants           Sort by:
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    physical disorder 4936
      congenital heart disease 1342
        cleft palate, cardiac defects, and intellectual disabillity 1
Path 2
Term Annotations click to browse term
  disease 21121
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18299
        genetic disease 18243
          monogenic disease 10326
            autosomal genetic disease 9476
              autosomal dominant disease 6217
                complex cortical dysplasia with other brain malformations 1581
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1119
                      cleft palate, cardiac defects, and intellectual disabillity 1
paths to the root