Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/611812
http://purl.bioontology.org/ontology/OMIM/611812
Preferred Name

46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
Synonyms
SERKAL SYNDROME
SERKAL
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SERKAL SYNDROME
SERKAL
prefLabel
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
Gene Symbol
SERKAL
WNT4
Scope Statement
Caused by mutation in the wingless-type MMTV integration site family, member 4 (WNT4, 603490.0002) [MOLECULAR BASIS]
All 3 pregnancies terminated [MISCELLANEOUS]
Based on 3 fetuses in 1 consanguineous family (last curated November 2016) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU012460
http://purl.bioontology.org/ontology/OMIM/MTHU026204
http://purl.bioontology.org/ontology/OMIM/MTHU009434
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU073769
http://purl.bioontology.org/ontology/OMIM/MTHU054684
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU054686
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU057324
http://purl.bioontology.org/ontology/OMIM/MTHU036334
http://purl.bioontology.org/ontology/OMIM/MTHU038307
http://purl.bioontology.org/ontology/OMIM/MTHU001436
http://purl.bioontology.org/ontology/OMIM/MTHU011723
http://purl.bioontology.org/ontology/OMIM/MTHU054687
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tui
T047
Gene Locus
1p35
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
611812
Semantic type UMLS property
Has inheritance type
cui
C2678492
OMIM Entry Type
3
OMIM MimType Value
pound
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