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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 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      orofacial cleft 125
        cleft palate 96
          Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.