Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/600132 http://purl.bioontology.org/ontology/OMIM/600132
Preferred Name	RETINITIS PIGMENTOSA 14
Synonyms	RP14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP14
prefLabel	RETINITIS PIGMENTOSA 14
Gene Symbol	TULP1 LCA15 RP14
notation	600132
Scope Statement	Caused by mutation in the TUB-like protein 1 gene (TULP1, 602280.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU072490 http://purl.bioontology.org/ontology/OMIM/MTHU008883 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU072489 http://purl.bioontology.org/ontology/OMIM/MTHU072492 http://purl.bioontology.org/ontology/OMIM/MTHU068919 http://purl.bioontology.org/ontology/OMIM/MTHU030342 http://purl.bioontology.org/ontology/OMIM/MTHU043764 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU063659 http://purl.bioontology.org/ontology/OMIM/MTHU072491 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	6p21.3
tui	T047
cui	C1838603

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