Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618195
http://purl.bioontology.org/ontology/OMIM/618195
Preferred Name

INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
Synonyms
IDDRP
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
IDDRP
prefLabel
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
Gene Symbol
SCAPER
IDDRP
KIAA1454
Scope Statement
Caused by mutation in the S-phase cyclin A-associated protein in the endoplasmic reticulum gene (SCAPER, 611611.0001) [MOLECULAR BASIS]
Onset of retinitis pigmentosa in the second and third decades of life [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU034843
http://purl.bioontology.org/ontology/OMIM/MTHU070594
http://purl.bioontology.org/ontology/OMIM/MTHU062861
http://purl.bioontology.org/ontology/OMIM/MTHU047201
http://purl.bioontology.org/ontology/OMIM/MTHU003224
http://purl.bioontology.org/ontology/OMIM/MTHU004637
http://purl.bioontology.org/ontology/OMIM/MTHU062859
http://purl.bioontology.org/ontology/OMIM/MTHU062866
http://purl.bioontology.org/ontology/OMIM/MTHU062858
http://purl.bioontology.org/ontology/OMIM/MTHU062863
http://purl.bioontology.org/ontology/OMIM/MTHU032601
http://purl.bioontology.org/ontology/OMIM/MTHU003281
http://purl.bioontology.org/ontology/OMIM/MTHU062865
http://purl.bioontology.org/ontology/OMIM/MTHU030431
http://purl.bioontology.org/ontology/OMIM/MTHU060616
http://purl.bioontology.org/ontology/OMIM/MTHU070595
http://purl.bioontology.org/ontology/OMIM/MTHU030342
http://purl.bioontology.org/ontology/OMIM/MTHU062860
http://purl.bioontology.org/ontology/OMIM/MTHU062867
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tui
T047
Gene Locus
15q24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618195
Semantic type UMLS property
Has inheritance type
cui
C4748658
OMIM Entry Type
3
OMIM MimType Value
pound
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