Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/613862
http://purl.bioontology.org/ontology/OMIM/613862
Preferred Name

RETINITIS PIGMENTOSA 38
Synonyms
RP38
ROD-CONE DYSTROPHY, CHILDHOOD-ONSET
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RP38
ROD-CONE DYSTROPHY, CHILDHOOD-ONSET
prefLabel
RETINITIS PIGMENTOSA 38
Gene Symbol
RP38
MERTK
Scope Statement
Caused by mutation in the MER tyrosine kinase protooncogene (MERTK, 604705.0001) [MOLECULAR BASIS]
Onset of symptoms in early childhood [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU012837
http://purl.bioontology.org/ontology/OMIM/MTHU008883
http://purl.bioontology.org/ontology/OMIM/MTHU039703
http://purl.bioontology.org/ontology/OMIM/MTHU039702
http://purl.bioontology.org/ontology/OMIM/MTHU039694
http://purl.bioontology.org/ontology/OMIM/MTHU039701
http://purl.bioontology.org/ontology/OMIM/MTHU034847
http://purl.bioontology.org/ontology/OMIM/MTHU039693
http://purl.bioontology.org/ontology/OMIM/MTHU008076
http://purl.bioontology.org/ontology/OMIM/MTHU068310
http://purl.bioontology.org/ontology/OMIM/MTHU069160
http://purl.bioontology.org/ontology/OMIM/MTHU069158
http://purl.bioontology.org/ontology/OMIM/MTHU039700
http://purl.bioontology.org/ontology/OMIM/MTHU039691
http://purl.bioontology.org/ontology/OMIM/MTHU069159
http://purl.bioontology.org/ontology/OMIM/MTHU069162
http://purl.bioontology.org/ontology/OMIM/MTHU031511
http://purl.bioontology.org/ontology/OMIM/MTHU069161
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tui
T047
Gene Locus
2q14.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
613862
Semantic type UMLS property
Has inheritance type
cui
C3151228
OMIM Entry Type
3
OMIM MimType Value
pound
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