Details of Disease | DrugMAP

General Information of Disease (ID: DISK1L7Q)

Disease Name	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
Synonyms	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND
Disease Hierarchy	DISYKSRF: Genetic disease DISK1L7Q: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0032928 UMLS CUI C5394133 OMIM ID 618806 MedGen ID 1712366

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXN1	OTE80D6I	Strong	Autosomal dominant	[1]
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References

1	Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann Hum Genet. 2004 May;68(Pt 3):265-8. doi: 10.1046/j.1529-8817.2004.00091.x.