Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/613843
http://purl.bioontology.org/ontology/OMIM/613843
Preferred Name

LEBER CONGENITAL AMAUROSIS 15
Synonyms
LCA15
RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LCA15
RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED
prefLabel
LEBER CONGENITAL AMAUROSIS 15
Gene Symbol
TULP1
LCA15
RP14
notation
613843
Scope Statement
Caused by mutation in the TUB-like protein 1 gene (TULP1, 602280.0004) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU069149
http://purl.bioontology.org/ontology/OMIM/MTHU034703
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU034704
http://purl.bioontology.org/ontology/OMIM/MTHU034699
http://purl.bioontology.org/ontology/OMIM/MTHU034705
http://purl.bioontology.org/ontology/OMIM/MTHU036505
http://purl.bioontology.org/ontology/OMIM/MTHU069150
http://purl.bioontology.org/ontology/OMIM/MTHU039523
http://purl.bioontology.org/ontology/OMIM/MTHU034700
http://purl.bioontology.org/ontology/OMIM/MTHU003279
http://purl.bioontology.org/ontology/OMIM/MTHU034707
http://purl.bioontology.org/ontology/OMIM/MTHU034701
http://purl.bioontology.org/ontology/OMIM/MTHU034706
http://purl.bioontology.org/ontology/OMIM/MTHU034698
http://purl.bioontology.org/ontology/OMIM/MTHU034697
http://purl.bioontology.org/ontology/OMIM/MTHU034713
http://purl.bioontology.org/ontology/OMIM/MTHU030342
http://purl.bioontology.org/ontology/OMIM/MTHU069151
http://purl.bioontology.org/ontology/OMIM/MTHU034702
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
6p21.3
tui
T047
cui
C1838603
C3151206
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