Online Mendelian Inheritance in Man - REVESZ SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/268130 http://purl.bioontology.org/ontology/OMIM/268130
Preferred Name	REVESZ SYNDROME
Synonyms	EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE DKCA5 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE DKCA5 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5
prefLabel	REVESZ SYNDROME
Gene Symbol	DKCA5 TINF2 TIN2 DKCA3
Scope Statement	Caused by mutation in the TERF1-interacting nuclear factor 2 gene (TINF2, 604319.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009661 http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU018552 http://purl.bioontology.org/ontology/OMIM/MTHU009664 http://purl.bioontology.org/ontology/OMIM/MTHU036684 http://purl.bioontology.org/ontology/OMIM/MTHU009657 http://purl.bioontology.org/ontology/OMIM/MTHU002047 http://purl.bioontology.org/ontology/OMIM/MTHU009660 http://purl.bioontology.org/ontology/OMIM/MTHU009658 http://purl.bioontology.org/ontology/OMIM/MTHU007419 http://purl.bioontology.org/ontology/OMIM/MTHU036682 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU009662 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU009663 http://purl.bioontology.org/ontology/OMIM/MTHU009481 http://purl.bioontology.org/ontology/OMIM/MTHU002586 http://purl.bioontology.org/ontology/OMIM/MTHU009656 http://purl.bioontology.org/ontology/OMIM/MTHU001720 http://purl.bioontology.org/ontology/OMIM/MTHU007699 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU009659 See more See less
tui	T047
Gene Locus	14q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	268130
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1327916
OMIM Entry Type	3
OMIM MimType Value	pound

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