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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 MEIS2 on chromosome 15q14. (DO)
Synonyms:exact_synonym: CPCMR;   Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
 broad_synonym: MEIS2-related disorder
 related_synonym: cleft palate, cardiac defects, and mental retardation
 primary_id: MESH:C563414
 alt_id: OMIM:600987
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30291340 NCBI chr 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      cleft palate, cardiac defects, and intellectual disabillity 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Musculoskeletal Abnormalities 2135
            Craniofacial Abnormalities 1855
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  orofacial cleft 124
                    cleft lip 54
                      cleft palate, cardiac defects, and intellectual disabillity 1
paths to the root