Online Mendelian Inheritance in Man - OROFACIODIGITAL SYNDROME XXI - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/301132 http://purl.bioontology.org/ontology/OMIM/301132
Preferred Name	OROFACIODIGITAL SYNDROME XXI
Synonyms	OFD21
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OFD21
prefLabel	OROFACIODIGITAL SYNDROME XXI
Gene Symbol	OFD21 ZRSR2 U2AF1RS2
Scope Statement	Caused by mutation in the zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein-2 gene (ZRSR2, 300028.0001) [MOLECULAR BASIS] Heterozygous female carriers are unaffected [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU076337 http://purl.bioontology.org/ontology/OMIM/MTHU078885 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU001150 http://purl.bioontology.org/ontology/OMIM/MTHU061773 http://purl.bioontology.org/ontology/OMIM/MTHU074727 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU078896 http://purl.bioontology.org/ontology/OMIM/MTHU078889 http://purl.bioontology.org/ontology/OMIM/MTHU010425 http://purl.bioontology.org/ontology/OMIM/MTHU037878 http://purl.bioontology.org/ontology/OMIM/MTHU013993 http://purl.bioontology.org/ontology/OMIM/MTHU078897 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU010414 http://purl.bioontology.org/ontology/OMIM/MTHU001627 http://purl.bioontology.org/ontology/OMIM/MTHU000059 http://purl.bioontology.org/ontology/OMIM/MTHU060600 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU007078 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU007616 http://purl.bioontology.org/ontology/OMIM/MTHU078888 http://purl.bioontology.org/ontology/OMIM/MTHU072823 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU046376 http://purl.bioontology.org/ontology/OMIM/MTHU078891 http://purl.bioontology.org/ontology/OMIM/MTHU012386 http://purl.bioontology.org/ontology/OMIM/MTHU067811 http://purl.bioontology.org/ontology/OMIM/MTHU034852 http://purl.bioontology.org/ontology/OMIM/MTHU078895 http://purl.bioontology.org/ontology/OMIM/MTHU078887 http://purl.bioontology.org/ontology/OMIM/MTHU071883 http://purl.bioontology.org/ontology/OMIM/MTHU078886 http://purl.bioontology.org/ontology/OMIM/MTHU002681 http://purl.bioontology.org/ontology/OMIM/MTHU000557 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU078893 http://purl.bioontology.org/ontology/OMIM/MTHU078884 http://purl.bioontology.org/ontology/OMIM/MTHU078892 http://purl.bioontology.org/ontology/OMIM/MTHU078890 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU004822 http://purl.bioontology.org/ontology/OMIM/MTHU045573 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU019169 http://purl.bioontology.org/ontology/OMIM/MTHU078894 http://purl.bioontology.org/ontology/OMIM/MTHU011786 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	Xp22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	301132
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C5974875
OMIM Entry Type	3
OMIM MimType Value	pound

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