Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618060
http://purl.bioontology.org/ontology/OMIM/618060
Preferred Name

INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
Synonyms
IDDECA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
IDDECA
prefLabel
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
Gene Symbol
IDDECA
RORA
Scope Statement
Caused by mutation in the RAR-related orphan receptor A gene (RORA, 600825.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000629
http://purl.bioontology.org/ontology/OMIM/MTHU000269
http://purl.bioontology.org/ontology/OMIM/MTHU047747
http://purl.bioontology.org/ontology/OMIM/MTHU004435
http://purl.bioontology.org/ontology/OMIM/MTHU008070
http://purl.bioontology.org/ontology/OMIM/MTHU036341
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU004246
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU043125
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU055514
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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tui
T047
Gene Locus
15q21-q22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618060
Semantic type UMLS property
Has inheritance type
cui
C4748041
OMIM Entry Type
3
OMIM MimType Value
pound
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