Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/301134 http://purl.bioontology.org/ontology/OMIM/301134
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114
Synonyms	XLID114
Type	http://www.w3.org/2002/07/owl#Class

altLabel	XLID114
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114
Gene Symbol	MSSK1 SRPK3 XLID114 STK23
Scope Statement	Caused by mutation in the SRSF protein kinase 3 gene (SRPK3, 301002.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000399 http://purl.bioontology.org/ontology/OMIM/MTHU064350 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU007201 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU078905 http://purl.bioontology.org/ontology/OMIM/MTHU000555 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU078904 See more See less
tui	T048
Gene Locus	Xq28
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	301134
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T048
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU001678
cui	C5974891
OMIM Entry Type	3
OMIM MimType Value	pound

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