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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:isolated cleft palate
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Accession:DOID:0110213 term browser browse the term
Definition:A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. (DO)
Synonyms:exact_synonym: isolated cleft palate, and mental retardation
 primary_id: MESH:C566991
 alt_id: RDO:0015182
 xref: ICD10CM:Q35.1;   ICD10CM:Q35.5;   ICD10CM:Q35.7;   ORDO:2014
For additional species annotation, visit the Alliance of Genome Resources.



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isolated cleft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090 PMID:24728327 PMID:27153395 PMID:28492532 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Satb2 SATB homeobox 2 ISS
ISO
OMIM:119540
ClinVar Annotator: match by term: Cleft palate, isolated
MouseDO
ClinVar
PMID:25326635 PMID:25533962 PMID:25741868 PMID:26596517 PMID:29023086 More... NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        intellectual disability 3475
          isolated cleft palate 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Craniofacial Abnormalities 1964
              Maxillofacial Abnormalities 244
                Jaw Abnormalities 232
                  orofacial cleft 130
                    cleft palate 96
                      isolated cleft palate 2
paths to the root