Online Mendelian Inheritance in Man - DIAMOND-BLACKFAN ANEMIA 16 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	DIAMOND-BLACKFAN ANEMIA 16
Synonyms	DBA16
ID	http://purl.bioontology.org/ontology/OMIM/617408
altLabel	DBA16
cui	C4479424
Gene Locus	17q21.1-q21.2
Gene Symbol	DBA16 RPL27
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002606 http://purl.bioontology.org/ontology/OMIM/MTHU057944 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU057943 http://purl.bioontology.org/ontology/OMIM/MTHU057941 http://purl.bioontology.org/ontology/OMIM/MTHU004506 http://purl.bioontology.org/ontology/OMIM/MTHU057942
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617408
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DIAMOND-BLACKFAN ANEMIA 16
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0111893	Human Disease Ontology 123	LOOM