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ONTOLOGY REPORT - ANNOTATIONS


Term:lateral meningocele syndrome
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Accession:DOID:0111343 term browser browse the term
Definition:An autosomal dominant disease characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in NOTCH3 on chromosome 19p13.12. (DO)
Synonyms:exact_synonym: LMNS;   LMS;   Lehman syndrome
 primary_id: MESH:C537878
 alt_id: DOID:9006180;   OMIM:130720;   RDO:0003790
 xref: GARD:9873;   ORDO:2789
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lateral meningocele syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      lateral meningocele syndrome 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Urogenital Diseases 3965
        Female Urogenital Diseases and Pregnancy Complications 1718
          Female Urogenital Diseases 1461
            female reproductive system disease 1457
              prolapse of female genital organ 150
                enterocele 150
                  meningocele 5
                    lateral meningocele syndrome 1
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