Online Mendelian Inheritance in Man - 46,XY SEX REVERSAL 10 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616425 http://purl.bioontology.org/ontology/OMIM/616425
Preferred Name	46,XY SEX REVERSAL 10
Synonyms	SRXY10 CHROMOSOME 17q24 DELETION SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SRXY10 CHROMOSOME 17q24 DELETION SYNDROME
prefLabel	46,XY SEX REVERSAL 10
Gene Symbol	SOX9 SRA1 TES ENH13 CMD1 TESCO See more See less
Scope Statement	46,XX carriers are unaffected [MISCELLANEOUS] Caused by deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SRY-box-9 gene (SOX9, 608160.0018) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049169 http://purl.bioontology.org/ontology/OMIM/MTHU051724 http://purl.bioontology.org/ontology/OMIM/MTHU069998 http://purl.bioontology.org/ontology/OMIM/MTHU057069 http://purl.bioontology.org/ontology/OMIM/MTHU069999 http://purl.bioontology.org/ontology/OMIM/MTHU051728 http://purl.bioontology.org/ontology/OMIM/MTHU020704 http://purl.bioontology.org/ontology/OMIM/MTHU009926 http://purl.bioontology.org/ontology/OMIM/MTHU034594 http://purl.bioontology.org/ontology/OMIM/MTHU049170 http://purl.bioontology.org/ontology/OMIM/MTHU049171 http://purl.bioontology.org/ontology/OMIM/MTHU051718 http://purl.bioontology.org/ontology/OMIM/MTHU051722 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU069996 http://purl.bioontology.org/ontology/OMIM/MTHU014910 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU051730 http://purl.bioontology.org/ontology/OMIM/MTHU051726 http://purl.bioontology.org/ontology/OMIM/MTHU024062 http://purl.bioontology.org/ontology/OMIM/MTHU069997 http://purl.bioontology.org/ontology/OMIM/MTHU069995 See more See less
tui	T047
Gene Locus	17q24.3-q25.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616425
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225331
OMIM Entry Type	3
OMIM MimType Value	pound

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