Online Mendelian Inheritance in Man - BSCL2 GENE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	BSCL2 GENE
Synonyms	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 SEIPIN BSCL2 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY SILVER SPASTIC PARAPLEGIA SYNDROME NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13 ENCEPHALOPATHY, PROGRESSIVE, WITH LIPODYSTROPHY GNG3LG, MOUSE, HOMOLOG OF
ID	http://purl.bioontology.org/ontology/OMIM/606158
altLabel	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 SEIPIN BSCL2 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY SILVER SPASTIC PARAPLEGIA SYNDROME NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13 ENCEPHALOPATHY, PROGRESSIVE, WITH LIPODYSTROPHY GNG3LG, MOUSE, HOMOLOG OF
cui	C5436838 C4016959 C1720863 C1423761 C4014700 C2931276
Gene Locus	11q13
Gene Symbol	HMND13 SPG17 BSCL2 PELD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/606158.0011 http://purl.bioontology.org/ontology/OMIM/606158.0012 http://purl.bioontology.org/ontology/OMIM/606158.0013 http://purl.bioontology.org/ontology/OMIM/606158.0010 http://purl.bioontology.org/ontology/OMIM/606158.0014 http://purl.bioontology.org/ontology/OMIM/606158.0015 http://purl.bioontology.org/ontology/OMIM/606158.0019 http://purl.bioontology.org/ontology/OMIM/606158.0016 http://purl.bioontology.org/ontology/OMIM/606158.0017 http://purl.bioontology.org/ontology/OMIM/606158.0018 http://purl.bioontology.org/ontology/OMIM/606158.0020 http://purl.bioontology.org/ontology/OMIM/606158.0008 http://purl.bioontology.org/ontology/OMIM/606158.0003 http://purl.bioontology.org/ontology/OMIM/606158.0007 http://purl.bioontology.org/ontology/OMIM/606158.0001 http://purl.bioontology.org/ontology/OMIM/606158.0004 http://purl.bioontology.org/ontology/OMIM/606158.0009 http://purl.bioontology.org/ontology/OMIM/606158.0002 http://purl.bioontology.org/ontology/OMIM/606158.0006 http://purl.bioontology.org/ontology/OMIM/606158.0005
MIMTYPEMEANING	Gene with known sequence
notation	606158
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	BSCL2 GENE
tui	T047 T033 T019 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D052497	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C536644	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D052497	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230263009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/230263009	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X002u	RCD	CUI