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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:Prieto syndrome
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Accession:DOID:0060805 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: MRXS2;   PRS;   Prieto X-linked mental retardation syndrome;   Prieto-Badia-Mulas syndrome;   WNK3-RELATED CONDITION;   X-linked dysmorphic syndrome with mental retardation;   X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome;   X-linked mental retardation, syndromic 2;   X-linked mental retardation, with dysmorphism and cerebral atrophy
 xref: MESH:C535274;   MIM:309610;   MONDO:0010667;   ORDO:2958


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Prieto syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk3 WNK lysine deficient protein kinase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prieto syndrome | ClinVar Annotator: match by term: WNK3-related condition		 OMIM
CTD
ClinVar		 PMID:3121220 PMID:25741868 PMID:26350204 PMID:35678782 NCBI chr  X:20,156,260...20,299,252
Ensembl chr  X:20,157,041...20,296,821 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Prieto syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    X-Linked Intellectual Developmental Disorders 826
                      syndromic X-linked intellectual disability 620
                        Prieto syndrome 1
paths to the root