Revesz Syndrome

Preferred Label : Revesz Syndrome;

NCIt synonyms : DKCA5; Dyskeratosis Congenita, Autosomal Dominant, 5; Exudative Retinopathy with Bone Marrow Failure;

NCIt definition : An autosomal dominant form of dyskeratosis congenita, caused by mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. It is a fatal disease associated with exudative retinopathy and bone marrow failure.;

Détails

Origin ID

C152064;

UMLS CUI

C1327916;

Currated CISMeF NLP mapping
- Revesz Debuse syndrome [MeSH concept]
- Revesz syndrome [ORDO Disease]
- Revesz syndrome [DO Concept]
- Revesz syndrome [Disease (Nov.)]
- Revesz syndrome [OMIM Phenotype]
- Revesz syndrome (disorder) [SNOMED CT concept]
- revesz debuse syndrome [MeSH Supplementary Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Revesz Debuse syndrome [MeSH concept]
- Revesz syndrome [DO Concept]
- Revesz syndrome [OMIM Phenotype]
- Revesz syndrome [Disease (Nov.)]
- Revesz syndrome [ORDO Disease]
- Revesz syndrome (disorder) [SNOMED CT concept]
- revesz debuse syndrome [MeSH Supplementary Concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- TINF2 Gene [NCIt concept]
related_to_genetic_biomarker
- TINF2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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