Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	SURFEIT 1
Synonyms	SURF1
ID	http://purl.bioontology.org/ontology/OMIM/185620
altLabel	SURF1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K MITOCHONDRIAL COMPLEX IV DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
cui	C0268237 C4225246 C1420527 C1850599
Gene Locus	9q34
Gene Symbol	SURF1 CMT4K
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/185620.0014 http://purl.bioontology.org/ontology/OMIM/185620.0005 http://purl.bioontology.org/ontology/OMIM/185620.0006 http://purl.bioontology.org/ontology/OMIM/185620.0008 http://purl.bioontology.org/ontology/OMIM/185620.0007 http://purl.bioontology.org/ontology/OMIM/185620.0011 http://purl.bioontology.org/ontology/OMIM/185620.0002 http://purl.bioontology.org/ontology/OMIM/185620.0003 http://purl.bioontology.org/ontology/OMIM/185620.0016 http://purl.bioontology.org/ontology/OMIM/185620.0010 http://purl.bioontology.org/ontology/OMIM/185620.0004 http://purl.bioontology.org/ontology/OMIM/185620.0017 http://purl.bioontology.org/ontology/OMIM/185620.0015 http://purl.bioontology.org/ontology/OMIM/185620.0018 http://purl.bioontology.org/ontology/OMIM/185620.0009 http://purl.bioontology.org/ontology/OMIM/185620.0012 http://purl.bioontology.org/ontology/OMIM/185620.0001 http://purl.bioontology.org/ontology/OMIM/185620.0013
MIMTYPEMEANING	Gene with known sequence
notation	185620
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SURFEIT 1
tui	T028 T019 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564963	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP36624-2	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/D030401	Medical Subject Headings	CUI