Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619531 http://purl.bioontology.org/ontology/OMIM/619531
Preferred Name	CONE-ROD DYSTROPHY 22
Synonyms	CORD22
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORD22
prefLabel	CONE-ROD DYSTROPHY 22
Gene Symbol	TLCD3B FAM57B CORD22
Scope Statement	Phenotypic variability [MISCELLANEOUS] Caused by mutation in the TLC domain-containing 3B gene (TLCD3B, 615175.0001) [MOLECULAR BASIS] Onset from first to fifth decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU074258 http://purl.bioontology.org/ontology/OMIM/MTHU074256 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU074257 http://purl.bioontology.org/ontology/OMIM/MTHU050232 http://purl.bioontology.org/ontology/OMIM/MTHU039694 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU074254 http://purl.bioontology.org/ontology/OMIM/MTHU074255 http://purl.bioontology.org/ontology/OMIM/MTHU074259 http://purl.bioontology.org/ontology/OMIM/MTHU057995 http://purl.bioontology.org/ontology/OMIM/MTHU060250 See more See less
tui	T047
Gene Locus	16p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619531
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5561989
OMIM Entry Type	3
OMIM MimType Value	pound

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