Anemia, hypochromic microcytic, with iron overload 1

Preferred Label : Anemia, hypochromic microcytic, with iron overload 1;

Symbol : AHMIO1;

CISMeF acronym : AHMIO1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #206100;

Details

Origin ID

206100;

UMLS CUI

C3806153;

Currated CISMeF NLP mapping
- Hypochromic microcytic anemia with iron overload (disorder) [SNOMED CT concept]
- Microcytic anaemia with liver iron overload [ICD-11 More detail]
- Microcytic anemia with liver iron overload [ORDO Disease]
- anemia, hypochromic microcytic, with iron overload [MeSH concept]
- anemia, hypochromic microcytic, with iron overload [MeSH Supplementary Concept]
DO Cross reference
- hypochromic microcytic anemia [DO Concept]
Genes related to phenotype
- Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the liver [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Hypochromia [HPO term]
ORDO concept(s)
- Microcytic anemia with liver iron overload [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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