Online Mendelian Inheritance in Man - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 4 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/611107 http://purl.bioontology.org/ontology/OMIM/611107
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 4
Synonyms	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 MRT4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 MRT4
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 4
Gene Symbol	MRT4
notation	611107
Scope Statement	Detailed clinical findings and neuroimaging reported on one patient [MISCELLANEOUS] One large consanguineous Turkish family with 4 affected males has been reported (last curated June 2007) [MISCELLANEOUS]
OMIM MimType Value	perc
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T048
OMIM Entry Type	5
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU054666 http://purl.bioontology.org/ontology/OMIM/MTHU054663 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU043826 http://purl.bioontology.org/ontology/OMIM/MTHU000264 http://purl.bioontology.org/ontology/OMIM/MTHU054665 http://purl.bioontology.org/ontology/OMIM/MTHU054664 http://purl.bioontology.org/ontology/OMIM/MTHU032473 See more See less
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
Gene Locus	1p21.1-p13.3
tui	T048
cui	C1970179

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