Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

BCS1, S. CEREVISIAE, HOMOLOG-LIKE

Synonyms

BCS1L

ID

http://purl.bioontology.org/ontology/OMIM/603647

altLabel

BCS1L

BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY

BJORNSTAD SYNDROME

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

GRACILE SYNDROME

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY

cui

C0266006

C4016851

C3541471

C1850598

C1864002

C1412777

Gene Locus

2q33

Gene Symbol

GRACILE

BCS1L

BJS

PTD

FLNMS

MC3DN1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603647.0013

http://purl.bioontology.org/ontology/OMIM/603647.0001

http://purl.bioontology.org/ontology/OMIM/603647.0002

http://purl.bioontology.org/ontology/OMIM/603647.0009

http://purl.bioontology.org/ontology/OMIM/603647.0007

http://purl.bioontology.org/ontology/OMIM/603647.0010

http://purl.bioontology.org/ontology/OMIM/603647.0008

http://purl.bioontology.org/ontology/OMIM/603647.0011

http://purl.bioontology.org/ontology/OMIM/603647.0004

http://purl.bioontology.org/ontology/OMIM/603647.0012

http://purl.bioontology.org/ontology/OMIM/603647.0005

http://purl.bioontology.org/ontology/OMIM/603647.0003

http://purl.bioontology.org/ontology/OMIM/603647.0006

MIMTYPEMEANING

Gene with known sequence

notation

603647

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

BCS1, S. CEREVISIAE, HOMOLOG-LIKE

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/LNC/LP61619-0 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C564962 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537633 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537934 Medical Subject Headings CUI