Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	NEUROBEACHIN-LIKE 2
Synonyms	KIAA0540
ID	http://purl.bioontology.org/ontology/OMIM/614169
altLabel	KIAA0540 NBEAL2 GRAY PLATELET SYNDROME
cui	C0272302 C1538045
Gene Locus	3p22.1-p21.1
Gene Symbol	NBEAL2 BDPLT4 GPS KIAA0540
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/614169.0003 http://purl.bioontology.org/ontology/OMIM/614169.0005 http://purl.bioontology.org/ontology/OMIM/614169.0004 http://purl.bioontology.org/ontology/OMIM/614169.0002 http://purl.bioontology.org/ontology/OMIM/614169.0001 http://purl.bioontology.org/ontology/OMIM/614169.0007 http://purl.bioontology.org/ontology/OMIM/614169.0006
MIMTYPEMEANING	Gene with known sequence
notation	614169
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NEUROBEACHIN-LIKE 2
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/D69.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/MESH/D055652	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X20F0	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D055652	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DC-61940	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/51720005	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181115	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/51720005	SNOMEDCT	CUI
http://www.orpha.net/ORDO/Orphanet_279603	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_20394	HRDO	LOOM