Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616502 http://purl.bioontology.org/ontology/OMIM/616502
Preferred Name	CONE-ROD DYSTROPHY 21
Synonyms	CORD21 RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORD21 RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT
prefLabel	CONE-ROD DYSTROPHY 21
Gene Symbol	DRAM2 TMEM77 CORD21
Scope Statement	Caused by mutation in the damage regulated autophagy modulator 2 gene (DRAM2, 613360.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU052010 http://purl.bioontology.org/ontology/OMIM/MTHU052011 http://purl.bioontology.org/ontology/OMIM/MTHU012837 http://purl.bioontology.org/ontology/OMIM/MTHU052013 http://purl.bioontology.org/ontology/OMIM/MTHU051869 http://purl.bioontology.org/ontology/OMIM/MTHU029961 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU030431 http://purl.bioontology.org/ontology/OMIM/MTHU052014 See more See less
tui	T047
Gene Locus	1p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616502
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4049066
OMIM Entry Type	3
OMIM MimType Value	pound

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