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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: KDM1A-RELATED CONDITION;   neurodevelopmental and congenital anomalies
 primary_id: MIM:616728


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 PMID:27094131 More... NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    physical disorder 5194
      orofacial cleft 160
        cleft palate 118
          Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3457
            Craniofacial Abnormalities 2779
              Maxillofacial Abnormalities 315
                Jaw Abnormalities 269
                  orofacial cleft 160
                    cleft palate 118
                      Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
paths to the root