Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300498 http://purl.bioontology.org/ontology/OMIM/300498
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 45
Synonyms	MRX45 XLID45 MENTAL RETARDATION, X-LINKED 45
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MRX45 XLID45 MENTAL RETARDATION, X-LINKED 45
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 45
Gene Symbol	MRX45 XLID45
Scope Statement	One 6 generation family with 10 affected males has been described [MISCELLANEOUS] Caused by mutation in the zinc finger protein 81 gene (ZNF81, 314998.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001852 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU053842 http://purl.bioontology.org/ontology/OMIM/MTHU038091 http://purl.bioontology.org/ontology/OMIM/MTHU000577 http://purl.bioontology.org/ontology/OMIM/MTHU031115 http://purl.bioontology.org/ontology/OMIM/MTHU014172 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU001819 http://purl.bioontology.org/ontology/OMIM/MTHU057028 See more See less
tui	T048
Gene Locus	Xp11.3-p11.21
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	300498
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T048
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU001678
cui	C1845333
OMIM Entry Type	5
OMIM MimType Value	perc

Delete	Subject	Author	Type	Created
No notes to display