Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616217 http://purl.bioontology.org/ontology/OMIM/616217
Preferred Name	NEPHRONOPHTHISIS 19
Synonyms	NPHP19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NPHP19
prefLabel	NEPHRONOPHTHISIS 19
Gene Symbol	DFNB66 RU2 NSC KIAA1154 DCDC2 NPHP19 See more See less
Scope Statement	Caused by mutation in the doublecortin domain-containing protein 2 gene (DCDC2, 605755.0001) [MOLECULAR BASIS] Two unrelated patients have been reported (last curated February 2015) [MISCELLANEOUS] Onset of liver involvement in infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU069940 http://purl.bioontology.org/ontology/OMIM/MTHU009667 http://purl.bioontology.org/ontology/OMIM/MTHU036803 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU037221 http://purl.bioontology.org/ontology/OMIM/MTHU001311 http://purl.bioontology.org/ontology/OMIM/MTHU048126 http://purl.bioontology.org/ontology/OMIM/MTHU069941 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU011727 See more See less
tui	T047
Gene Locus	6p22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616217
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4015542
OMIM Entry Type	3
OMIM MimType Value	pound

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