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1.

Heme oxygenase 1 deficiency

Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by Chau et al., 2020). Other features may include asplenia and nephritis (Radhakrishnan et al., 2011). [from OMIM]

MedGen UID:
333882
Concept ID:
C1841651
Disease or Syndrome
2.

Chemosis

Edema (swelling) of the bulbar conjunctiva. [from HPO]

MedGen UID:
124393
Concept ID:
C0271298
Pathologic Function

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