Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	METHEMOGLOBINEMIA, BETA TYPE
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/617971
cui	C1840779
Gene Locus	11p15.5
Gene Symbol	ECYT6 HBB
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036837 http://purl.bioontology.org/ontology/OMIM/MTHU039706 http://purl.bioontology.org/ontology/OMIM/MTHU071848
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617971
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	METHEMOGLOBINEMIA, BETA TYPE
Scope Statement	Onset of cyanosis during infancy as beta hemoglobin synthesis increases [MISCELLANEOUS] Caused by mutation in the hemoglobin beta gene (HBB, 141900.0163) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564192	MESH	CUI