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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:lateral meningocele syndrome
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Accession:DOID:0111343 term browser browse the term
Definition:A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. (DO)
Synonyms:exact_synonym: LMNS;   LMS;   Lehman syndrome
 primary_id: MESH:C537878
 alt_id: OMIM:130720
 xref: GARD:9873;   ORDO:2789


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Path 1
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  disease 17996
    syndrome 10168
      lateral meningocele syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4727
        Female Urogenital Diseases and Pregnancy Complications 2329
          Female Urogenital Diseases 1917
            female reproductive system disease 1914
              prolapse of female genital organ 185
                enterocele 185
                  meningocele 7
                    lateral meningocele syndrome 1
paths to the root