ZFIN Human Disease: lateral meningocele syndrome

OBO ID: DOID:0111343

Term Name:	lateral meningocele syndrome		Search Ontology:
Synonyms:	Lehman syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/25394726
References:	GARD:9873 MESH:C537878 OMIM:130720 ORDO:2789 UMLS_CUI:C1851710
Ontology:	Human Disease ( DOID:0111343 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NOTCH3	notch3	Lateral meningocele syndrome	130720

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None