Online Mendelian Inheritance in Man - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE
Synonyms	MRXSLF LUJAN-FRYNS SYNDROME MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 1
ID	http://purl.bioontology.org/ontology/OMIM/309520
altLabel	MRXSLF LUJAN-FRYNS SYNDROME MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 1
cui	C0796022
Gene Locus	Xq13
Gene Symbol	OKS TNRC11 HDKR TRAP230 KIAA0192 HOPA MED12 FGS1 OHDOX
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001779 http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU007299 http://purl.bioontology.org/ontology/OMIM/MTHU007295 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU005403 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU007290 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU007297 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU001852 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU007300 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU005940 http://purl.bioontology.org/ontology/OMIM/MTHU007293 http://purl.bioontology.org/ontology/OMIM/MTHU020477 http://purl.bioontology.org/ontology/OMIM/MTHU007292 http://purl.bioontology.org/ontology/OMIM/MTHU004560 http://purl.bioontology.org/ontology/OMIM/MTHU001164 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU006883 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU000912 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU002602 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU007291 http://purl.bioontology.org/ontology/OMIM/MTHU007294 http://purl.bioontology.org/ontology/OMIM/MTHU006858 http://purl.bioontology.org/ontology/OMIM/MTHU005815 http://purl.bioontology.org/ontology/OMIM/MTHU007296 http://purl.bioontology.org/ontology/OMIM/MTHU037499 http://purl.bioontology.org/ontology/OMIM/MTHU007289 http://purl.bioontology.org/ontology/OMIM/MTHU004645 http://purl.bioontology.org/ontology/OMIM/MTHU007298 http://purl.bioontology.org/ontology/OMIM/MTHU036356 http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	309520
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE
Scope Statement	Caused by mutation in the S. cerevisiae homolog of mediator of RNA polymerase II transcription, subunit 12 gene (MED12, 300188.0002) [MOLECULAR BASIS] Allelic disorder to Opitz-Kaveggia syndrome (305450) [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SCTSPA/422437002	SCTSPA	CUI
	http://purl.bioontology.org/ontology/MESH/C537724	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/422437002	SNOMEDCT	CUI