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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome 2
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Accession:DOID:0060580 term browser browse the term
Definition:A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: NS2;   Noonan Syndrome, Autosomal Recessive
 primary_id: MESH:C548081
 alt_id: OMIM:605275;   RDO:0004662
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Noonan syndrome 2 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 15625
    syndrome 5162
      Noonan syndrome 52
        Noonan syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal recessive disease 2056
                Noonan syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.