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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 transcription regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 10 ClinVar
OMIM
PMID:16356934 PMID:18948947 PMID:24362817 PMID:25335493 PMID:25480913 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      congenital heart disease 1088
        Noonan syndrome 55
          Noonan syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                Noonan syndrome 10 1
paths to the root