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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620603
http://purl.bioontology.org/ontology/OMIM/620603
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE |
| Synonyms |
IMD114
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMD114
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
|
| Gene Symbol |
SLC19A1
IMD114
FOLT
MEGAF
|
| Scope Statement | Onset in early infancy [MISCELLANEOUS]
Four patients from 2 unrelated Turkish families have been reported (last curated November 2023) [MISCELLANEOUS]
Caused by mutation in the solute carrier family 19 (folate transporter), member 1 gene (SLC19A1, 600424.0002) [MOLECULAR BASIS]
Favorable hematologic and immunologic response to folic acid treatment [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620603
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882719
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |