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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 NOTCH3 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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lateral meningocele syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Lateral meningocele syndrome OMIM
ClinVar		 PMID:9188658 PMID:15666314 PMID:21337686 PMID:21448560 PMID:23696373 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      lateral meningocele syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      Urogenital Diseases 4936
        Female Urogenital Diseases and Pregnancy Complications 2344
          Female Urogenital Diseases 1941
            female reproductive system disease 1938
              prolapse of female genital organ 176
                enterocele 176
                  meningocele 7
                    lateral meningocele syndrome 1
paths to the root