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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, Psychomotor Retardation, and Distinctive Facial Features
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Accession:DOID:9001445 term browser browse the term
Synonyms:exact_synonym: CPRF
 broad_synonym: neurodevelopmental and congenital anomalies
 primary_id: OMIM:616728
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    physical disorder 3892
      orofacial cleft 134
        cleft palate 101
          Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
Path 2
Term Annotations click to browse term
  disease 17941
    Developmental Disease 12578
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11312
        Congenital Abnormalities 6478
          Musculoskeletal Abnormalities 2680
            Craniofacial Abnormalities 2313
              Maxillofacial Abnormalities 280
                Jaw Abnormalities 233
                  orofacial cleft 134
                    cleft palate 101
                      Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
paths to the root