# T-cell immunodeficiency, congenital alopecia, and nail dystrophy

> severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12

**Wikidata**: [Q28065574](https://www.wikidata.org/wiki/Q28065574)  
**Source**: https://4ort.xyz/entity/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Exposing the human nude phenotype
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4518c986-fb1d-4f9a-a24a-ab38891a0162-2021-11-05T181626.460Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109101/MONDO_0011132)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109101/Orphanet_169095)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)