Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	NEUROFASCIN
Synonyms	NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION NFASC KIAA0756
ID	http://purl.bioontology.org/ontology/OMIM/609145
altLabel	NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION NFASC KIAA0756
cui	C5193049 C1826398
Gene Locus	1q32.1
Gene Symbol	NFASC KIAA0756 NEDCPMD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/609145.0002 http://purl.bioontology.org/ontology/OMIM/609145.0003 http://purl.bioontology.org/ontology/OMIM/609145.0001
MIMTYPEMEANING	Gene with known sequence
notation	609145
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NEUROFASCIN
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000011162	OBA	LOOM
http://www.ncbi.nlm.nih.gov/gene/269116	NIFSTD	LOOM
http://uri.neuinfo.org/nif/nifstd/sao189141251	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000011162	PR	LOOM
http://purl.obolibrary.org/obo/PR_000011162	CCONT	LOOM
http://purl.obolibrary.org/obo/PR_000011162	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000011162	NIFSTD	LOOM
http://ccdb.ucsd.edu/SAO/1.2#sao189141251	SAO	LOOM