T-cell immunodeficiency, congenital alopecia, and nail dystrophy
http://purl.obolibrary.org/obo/MONDO_0011132
A 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. [ PMID:10206641 PMID:8911612 DOID:0060769 https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy ]
Term info
- SCTID:720345008 (MONDO:equivalentTo)
- GARD:0004358 (MONDO:equivalentTo)
- OMIM:601705 (Orphanet:169095/e)
- Orphanet:169095 (OMIM:601705)
- MESH:C536781 (MONDO:equivalentTo)
- DOID:0060769 (MONDO:equivalentTo)
- UMLS:C1866426 (OMIM:601705)
gard_rare, ordo_disease
https://github.com/monarch-initiative/mondo/issues/4069
A 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.
http://purl.obolibrary.org/obo/DOID_0060769, http://linkedlifedata.com/resource/umls/id/C1866426, http://identifiers.org/mesh/C536781, http://identifiers.org/snomedct/720345008, http://purl.obolibrary.org/obo/Orphanet_169095, https://omim.org/entry/601705
FOXN1 deficiency, alymphoid cystic thymic dysgenesis, T-cell immunodeficiency, congenital alopecia, and nail dystrophy, severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome, winged helix deficiency, alopecia immunodeficiency
T-cell immunodeficiency, congenital alopecia and nail dystrophy, Pignata Guarino syndrome, congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency
MONDO:0011132
https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy