Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615860 http://purl.bioontology.org/ontology/OMIM/615860
Preferred Name	CONE-ROD DYSTROPHY 19
Synonyms	CORD19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CORD19
prefLabel	CONE-ROD DYSTROPHY 19
Gene Symbol	STAMP KIAA0998 TTLL5 CORD19
Scope Statement	Caused by mutation in the tubulin tyrosine ligase-like family member 5 gene (TTLL5, 612268.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU047166 http://purl.bioontology.org/ontology/OMIM/MTHU047164 http://purl.bioontology.org/ontology/OMIM/MTHU047167 http://purl.bioontology.org/ontology/OMIM/MTHU047165
tui	T047
Gene Locus	14q24.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615860
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4014501
OMIM Entry Type	3
OMIM MimType Value	pound

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