Online Mendelian Inheritance in Man - COMPLEMENT COMPONENT 5 - Classes

Preferred Name	COMPLEMENT COMPONENT 5
Synonyms	COMPLEMENT COMPONENT 5 DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/120900
altLabel	COMPLEMENT COMPONENT 5 DEFICIENCY ECULIZUMAB, POOR RESPONSE TO C5 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
cui	C4015968 C3810402 C0343047 C1367710
Gene Locus	9q34.1
Gene Symbol	C5D ECLZB C5
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/120900.0004 http://purl.bioontology.org/ontology/OMIM/120900.0003 http://purl.bioontology.org/ontology/OMIM/120900.0005 http://purl.bioontology.org/ontology/OMIM/120900.0006 http://purl.bioontology.org/ontology/OMIM/120900.0002 http://purl.bioontology.org/ontology/OMIM/120900.0001 http://purl.bioontology.org/ontology/OMIM/120900.0007
MIMTYPEMEANING	Gene with known sequence
Moved from	227100
notation	120900
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	COMPLEMENT COMPONENT 5
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C537005	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10/L21.1	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10CM/L21.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bmicc.cn/ontology/ICD10CN/L21.1	International Classification of Diseases, 10th Edition, China	CUI