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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      Noonan syndrome 43
        Noonan syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              Noonan syndrome 43
                Noonan syndrome 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.