Immunodeficiency 129

Preferred Label : Immunodeficiency 129;

Symbol : IMD129;

CISMeF acronym : EV4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EV4; Epidermodysplasia verruciformis, susceptibility to, 4;

Inheritance : Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the RAS homolog gene family, member H gene (RHOH, 602037.0001);

Neoplasia : Burkitt lymphoma (patient A);

Prefixed ID : #618307;

Details

Origin ID

618307;

UMLS CUI

C4749042;

Currated CISMeF NLP mapping
- Epidermodysplasia Verruciformis, Susceptibility to, 4 [NCIt concept]
- T-cell immunodeficiency due to ras homolog family member H deficiency (disorder) [SNOMED CT concept]
- T-cell immunodeficiency with epidermodysplasia verruciformis [ORDO Disease]
DO Cross reference
- immunodeficiency 129 [DO Concept]
Genes related to phenotype
- Ras homolog gene family, member h [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Burkitt lymphoma [HPO term]
- Childhood onset [HPO term]
- Disseminated cutaneous warts [HPO term]
- Emphysema [HPO term]
- Facial erythema [HPO term]
- Increased proportion of exhausted T cells [HPO term]
- Stomatitis [HPO term]
ORDO concept(s)
- T-cell immunodeficiency with epidermodysplasia verruciformis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermodysplasia Verruciformis, Susceptibility to, 4 [NCIt concept]

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