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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/273250
http://purl.bioontology.org/ontology/OMIM/273250
Preferred Name

46,XY SEX REVERSAL 11
Synonyms
SRXY11
ANORCHIA, FAMILIAL
XY GONADAL AGENESIS/DYSGENESIS SYNDROME
TESTICULAR REGRESSION, EMBRYONIC
TRS
TESTICULAR REGRESSION SYNDROME
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SRXY11
ANORCHIA, FAMILIAL
XY GONADAL AGENESIS/DYSGENESIS SYNDROME
TESTICULAR REGRESSION, EMBRYONIC
TRS
TESTICULAR REGRESSION SYNDROME
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prefLabel
46,XY SEX REVERSAL 11
Gene Symbol
NEDBAVC
DHX37
SRXY11
KIAA1517
notation
273250
Scope Statement
Incomplete penetrance has been observed [MISCELLANEOUS]
Clinical variability [MISCELLANEOUS]
Caused by mutation in the DEAH-box helicase 37 gene (DHX37, 617362.0006) [MOLECULAR BASIS]
46,XY individuals may present as male or female [MISCELLANEOUS]
Sex-limited autosomal dominant inheritance [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU067916
http://purl.bioontology.org/ontology/OMIM/MTHU067898
http://purl.bioontology.org/ontology/OMIM/MTHU057339
http://purl.bioontology.org/ontology/OMIM/MTHU067923
http://purl.bioontology.org/ontology/OMIM/MTHU067899
http://purl.bioontology.org/ontology/OMIM/MTHU067913
http://purl.bioontology.org/ontology/OMIM/MTHU067919
http://purl.bioontology.org/ontology/OMIM/MTHU067921
http://purl.bioontology.org/ontology/OMIM/MTHU067902
http://purl.bioontology.org/ontology/OMIM/MTHU067903
http://purl.bioontology.org/ontology/OMIM/MTHU050419
http://purl.bioontology.org/ontology/OMIM/MTHU067904
http://purl.bioontology.org/ontology/OMIM/MTHU067914
http://purl.bioontology.org/ontology/OMIM/MTHU067920
http://purl.bioontology.org/ontology/OMIM/MTHU067909
http://purl.bioontology.org/ontology/OMIM/MTHU067912
http://purl.bioontology.org/ontology/OMIM/MTHU050418
http://purl.bioontology.org/ontology/OMIM/MTHU067908
http://purl.bioontology.org/ontology/OMIM/MTHU067918
http://purl.bioontology.org/ontology/OMIM/MTHU067917
http://purl.bioontology.org/ontology/OMIM/MTHU067901
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU067925
http://purl.bioontology.org/ontology/OMIM/MTHU062827
http://purl.bioontology.org/ontology/OMIM/MTHU067900
http://purl.bioontology.org/ontology/OMIM/MTHU067910
http://purl.bioontology.org/ontology/OMIM/MTHU067905
http://purl.bioontology.org/ontology/OMIM/MTHU020868
http://purl.bioontology.org/ontology/OMIM/MTHU067911
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU067915
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU067922
http://purl.bioontology.org/ontology/OMIM/MTHU067906
http://purl.bioontology.org/ontology/OMIM/MTHU067907
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
12q24.31
tui
T047
cui
C0266427
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