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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/619693
http://purl.bioontology.org/ontology/OMIM/619693
|
|---|---|
| Preferred Name | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE |
| Synonyms |
AGM9
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO SLC39A7 DEFECT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AGM9
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO SLC39A7 DEFECT
|
|---|---|
| prefLabel | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
SLC39A7
HKE4
AGM9
D6S2244E
|
| notation | 619693
|
| Scope Statement | Hematopoietic stem cell transplantation may be curative [MISCELLANEOUS]
Onset in the first months or years of life [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Treatment with Ig replacement is effective [MISCELLANEOUS]
Caused by mutation in the solute carrier family 39 (zinc transporter), member 7 gene (SLC39A7, 601416.0001) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 6p21.3
|
| tui | T047
|
| cui | C5562059
|
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