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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:Noonan syndrome 10
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Accession:DOID:0060588 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1;   NS10
 related_synonym: LZTR1-related disorder
 primary_id: OMIM:616564
 alt_id: RDO:9001517


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Noonan syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine zipper like post translational regulator 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:616564
ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10		 CTD
MouseDO
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16356934 PMID:17576681 PMID:18948947 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      congenital heart disease 1349
        Noonan syndrome 54
          Noonan syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                Noonan syndrome 10 1
paths to the root