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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Lehman syndrome
ClinVar Annotator: match by term: Lateral meningocele syndrome
ClinVar
OMIM
PMID:9188658 PMID:15666314 PMID:21337686 PMID:23696373 PMID:25394726 PMID:25741868 PMID:26754023 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      lateral meningocele syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1924
          Female Urogenital Diseases 1629
            female reproductive system disease 1625
              prolapse of female genital organ 175
                enterocele 175
                  meningocele 6
                    lateral meningocele syndrome 1
paths to the root