Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617547 http://purl.bioontology.org/ontology/OMIM/617547
Preferred Name	RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Synonyms	RDMS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RDMS
prefLabel	RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Gene Symbol	CFAP410 SMDAX RDMS C21orf2
Scope Statement	Caused by mutation in the chromosome 21 open reading frame-2 gene (C21ORF2, 603191.0004) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU052668 http://purl.bioontology.org/ontology/OMIM/MTHU001998 http://purl.bioontology.org/ontology/OMIM/MTHU036671 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU034847 http://purl.bioontology.org/ontology/OMIM/MTHU059225 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU036538 http://purl.bioontology.org/ontology/OMIM/MTHU008446 http://purl.bioontology.org/ontology/OMIM/MTHU059227 http://purl.bioontology.org/ontology/OMIM/MTHU070424 http://purl.bioontology.org/ontology/OMIM/MTHU053573 http://purl.bioontology.org/ontology/OMIM/MTHU059226 See more See less
tui	T047
Gene Locus	21q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617547
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4479651
OMIM Entry Type	3
OMIM MimType Value	pound

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