loading...| Preferred Name | T-CELL IMMUNODEFICIENCY WITH THYMIC APLASIA | |
| Synonyms |
T-LYMPHOCYTE DEFICIENCY IMMUNE DEFECT DUE TO ABSENCE OF THYMUS TIDTA NEZELOF SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/242700 |
|
| altLabel |
T-LYMPHOCYTE DEFICIENCY IMMUNE DEFECT DUE TO ABSENCE OF THYMUS TIDTA NEZELOF SYNDROME |
|
| cui |
C1744558 C0152094 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU073535 http://purl.bioontology.org/ontology/OMIM/MTHU008324 http://purl.bioontology.org/ontology/OMIM/MTHU051749 http://purl.bioontology.org/ontology/OMIM/MTHU073534 http://purl.bioontology.org/ontology/OMIM/MTHU073533 http://purl.bioontology.org/ontology/OMIM/MTHU005466 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
242700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
T-CELL IMMUNODEFICIENCY WITH THYMIC APLASIA |
|
| Scope Statement |
Caused by mutation in the forkhead box N1 gene (FOXN1, 600838.0004) [MOLECULAR BASIS] Early death may occur [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] One patient with a confirmed FOXN1 mutation has been reported (last curated March 2020) [MISCELLANEOUS] |
|
| tui |
T047 |