hereditary methemoglobinemia
Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
MONDO:0001117
methemoglobinemia
is_a
MONDO:0002280
anemia
is_a
MONDO:0019050
inherited hemoglobinopathy
is_a
autosomal recessive methemoglobinemia
exact
congenital methemoglobinemia
exact
hereditary methemoglobinemia
exact
SPCC16A11.10c SPBC29A10.16c SPCC970.03