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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