Epidermodysplasia Verruciformis, Susceptibility to, 4

Preferred Label : Epidermodysplasia Verruciformis, Susceptibility to, 4;

NCIt synonyms : EV4;

NCIt related terms : RhoH Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.;

NCI Metathesaurus CUI : CL968145;

Details

Origin ID

C176608;

UMLS CUI

C4749042;

Currated CISMeF NLP mapping
- Epidermodysplasia verruciformis, susceptibility to, 4 [OMIM Phenotype]
- T-cell immunodeficiency due to ras homolog family member H deficiency (disorder) [SNOMED CT concept]
- T-cell immunodeficiency with epidermodysplasia verruciformis [ORDO Disease]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermodysplasia verruciformis, susceptibility to, 4 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- RHOH Gene [NCIt concept]
related_to_genetic_biomarker
- RHOH Gene [NCIt concept]

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