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Disease core ontology applied to Rare Diseases
Last uploaded: February 7, 2014
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Preferred Name
Collagen, type I, alpha 1
Synonyms
OI4
ID
http://www.limics.org/hrdo/rdfns#gen_id_15767
altLabel
OI4
geneSymbol
COL1A1
id_Ensembl
ENSG00000108821
id_Genatlas
COL1A1
id_HGNC
2197
id_MIM
120150
id_Reactome
P02452
id_SwissProt
P02452
prefixIRI
hrdo:gen_id_15767
prefLabel
Collagen, type I, alpha 1
subClassOf
http://www.limics.org/hrdo/rdfns#gen_id_1
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Ontology
Source
http://purl.bioontology.org/ontology/OMIM/120150
OMIM
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