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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615234
http://purl.bioontology.org/ontology/OMIM/615234
|
|---|---|
| Preferred Name | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 |
| Synonyms |
AHMIO2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | AHMIO2
|
|---|---|
| prefLabel | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
|
| Gene Symbol |
TSAP6
STEAP3
AHMIO2
|
| Scope Statement | Patients have severe anemia requiring regular transfusions for normal activity [MISCELLANEOUS]
Caused by mutation in the STEAP3 metalloreductase gene (STEAP3, 609671.0001) [MOLECULAR BASIS]
One family reported (last curated May 2013) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q14.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615234
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3808920
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |