Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614034
http://purl.bioontology.org/ontology/OMIM/614034
Preferred Name

HEME OXYGENASE 1 DEFICIENCY
Synonyms
HMOX1D
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HMOX1D
prefLabel
HEME OXYGENASE 1 DEFICIENCY
Gene Symbol
HMOX1D
HMOX1
Scope Statement
Caused by mutation in the heme oxygenase 1 gene (HMOX1, 141250.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU073802
http://purl.bioontology.org/ontology/OMIM/MTHU008639
http://purl.bioontology.org/ontology/OMIM/MTHU068824
http://purl.bioontology.org/ontology/OMIM/MTHU036910
http://purl.bioontology.org/ontology/OMIM/MTHU026164
http://purl.bioontology.org/ontology/OMIM/MTHU005040
http://purl.bioontology.org/ontology/OMIM/MTHU053652
http://purl.bioontology.org/ontology/OMIM/MTHU009691
http://purl.bioontology.org/ontology/OMIM/MTHU009693
http://purl.bioontology.org/ontology/OMIM/MTHU044508
http://purl.bioontology.org/ontology/OMIM/MTHU069562
http://purl.bioontology.org/ontology/OMIM/MTHU008388
http://purl.bioontology.org/ontology/OMIM/MTHU002043
http://purl.bioontology.org/ontology/OMIM/MTHU016583
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU036916
http://purl.bioontology.org/ontology/OMIM/MTHU073801
http://purl.bioontology.org/ontology/OMIM/MTHU002630
http://purl.bioontology.org/ontology/OMIM/MTHU000013
http://purl.bioontology.org/ontology/OMIM/MTHU040132
http://purl.bioontology.org/ontology/OMIM/MTHU000211
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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tui
T047
Gene Locus
22q12
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614034
Semantic type UMLS property
Has inheritance type
cui
C1841651
OMIM Entry Type
3
OMIM MimType Value
pound
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