Heme oxygenase 1 deficiency

Preferred Label : Heme oxygenase 1 deficiency;

Symbol : HMOX1D;

CISMeF acronym : HMOX1D;

Type : Phenotype, molecular basis known;

Prefixed ID : #614034;

Détails

Origin ID

614034;

UMLS CUI

C1841651;

Automatic exact mappings (from CISMeF team)
- Heme oxygenase-1 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Heme oxygenase-1 deficiency (disorder) [SNOMED CT concept]
- heme oxygenase 1 deficiency [MeSH concept]
- heme oxygenase 1 deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Heme oxygenase 1 [OMIM gene]
HPO term(s)
- Asplenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cervical lymphadenopathy [HPO term]
- Chemosis [HPO term]
- Coombs-positive hemolytic anemia [HPO term]
- Diffuse alveolar hemorrhage [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Epistaxis [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hematuria [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hypertension [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Lymphadenopathy [HPO term]
- Nephritis [HPO term]
- Proteinuria [HPO term]
- Sepsis [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Heme oxygenase-1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heme oxygenase-1 deficiency (disorder) [SNOMED CT concept]
- heme oxygenase 1 deficiency [MeSH Supplementary Concept]
- heme oxygenase 1 deficiency [MeSH concept]

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