Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/242700 http://purl.bioontology.org/ontology/OMIM/242700
Preferred Name	T-CELL IMMUNODEFICIENCY WITH THYMIC APLASIA
Synonyms	T-LYMPHOCYTE DEFICIENCY IMMUNE DEFECT DUE TO ABSENCE OF THYMUS TIDTA NEZELOF SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	T-LYMPHOCYTE DEFICIENCY IMMUNE DEFECT DUE TO ABSENCE OF THYMUS TIDTA NEZELOF SYNDROME
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]
type	http://www.w3.org/2002/07/owl#Class
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 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU071396 See more See less
tui	T047
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	242700
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1744558 C0152094
OMIM Entry Type	3
OMIM MimType Value	pound

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