T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Preferred Label : T-cell immunodeficiency, congenital alopecia, and nail dystrophy;

Symbol : TIDAND;

CISMeF acronym : TIDAND;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #601705;

Détails

Origin ID

601705;

UMLS CUI

C1866426;

Automatic exact mappings (from CISMeF team)
- FOXN1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency due to FOXN1 deficiency [ORDO Disease]
- T-cell immunodeficiency, congenital alopecia and nail dystrophy [MeSH concept]
- T-cell immunodeficiency, congenital alopecia and nail dystrophy [MeSH Supplementary Concept]
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [DO Concept]
DO Cross reference
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [DO Concept]
Genes related to phenotype
- Forkhead box n1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased helper T cell proportion [HPO term]
- Nail dystrophy [HPO term]
- Nail pits [HPO term]
- Ridged nail [HPO term]
- Severe T-cell immunodeficiency [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to FOXN1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency due to FOXN1 deficiency [ORDO Disease]
- T-cell immunodeficiency, congenital alopecia and nail dystrophy [MeSH Supplementary Concept]
- T-cell immunodeficiency, congenital alopecia and nail dystrophy [MeSH concept]
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [DO Concept]

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