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Disease Ontology Browser
lateral meningocele syndrome (DOID:0111343)
Alliance: disease page
Synonyms: Lehman syndrome
Alt IDs: OMIM:130720, MESH:C537878, ORDO:2789, UMLS_CUI:C1851710
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory