T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant

Preferred Label : T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant;

Symbol : TLIND;

CISMeF acronym : TLIND;

Type : Phenotype, molecular basis known;

Prefixed ID : #618806;

Details

Origin ID

618806;

UMLS CUI

C5394133;

Automatic exact mappings (from CISMeF team)
- FOXN1 wt Allele [NCIt concept]
Genes related to phenotype
- Forkhead box n1 [OMIM gene]
HPO term(s)
- Abnormally low T cell receptor excision circle level [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Nail dystrophy [HPO term]
- Pneumonia [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to FOXN1 haploinsufficiency [ORDO Disease]
- Severe combined immunodeficiency due to FOXN1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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