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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 disability
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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 condition;   MEIS2-related disorder
 primary_id: MESH:C563414
 alt_id: MIM:600987


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cleft palate, cardiac defects, and intellectual disability 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 | ClinVar Annotator: match by term: MEIS2-related disorder		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital heart disease 1406
        cleft palate, cardiac defects, and intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1647
                  Malformations of Cortical Development, Group I 1402
                    microcephaly 1150
                      cleft palate, cardiac defects, and intellectual disability 1
paths to the root