Online Mendelian Inheritance in Man - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/301066 http://purl.bioontology.org/ontology/OMIM/301066
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Synonyms	MRXSPF
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MRXSPF
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Gene Symbol	MRXSPF RCCX1 TFE3
Scope Statement	Caused by mutation in the transcription factor for IgH enhancer gene (TFE3, 314310.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003664 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU004559 http://purl.bioontology.org/ontology/OMIM/MTHU064740 http://purl.bioontology.org/ontology/OMIM/MTHU000267 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU043125 http://purl.bioontology.org/ontology/OMIM/MTHU073590 http://purl.bioontology.org/ontology/OMIM/MTHU049372 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU012380 http://purl.bioontology.org/ontology/OMIM/MTHU005783 http://purl.bioontology.org/ontology/OMIM/MTHU000250 http://purl.bioontology.org/ontology/OMIM/MTHU017694 http://purl.bioontology.org/ontology/OMIM/MTHU011174 http://purl.bioontology.org/ontology/OMIM/MTHU001746 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	Xp11.22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	301066
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU001678
cui	C5561930
OMIM Entry Type	3
OMIM MimType Value	pound

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