Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608978 http://purl.bioontology.org/ontology/OMIM/608978
Preferred Name	MEACHAM SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	MEACHAM SYNDROME
Gene Symbol	WT1 NPHS4
Scope Statement	Gonads can have either ovarian or testicular morphology [MISCELLANEOUS] Caused by mutation in the WT1 transcription factor gene (WT1, 607102.0003) [MOLECULAR BASIS] Historic patients had complex congenital heart defects, gonads with testicular morphology, and neonatal death [MISCELLANEOUS] Based on a report of 2 half-sibs with XY karyotype (last curated June 2021) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006962 http://purl.bioontology.org/ontology/OMIM/MTHU003459 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU037913 http://purl.bioontology.org/ontology/OMIM/MTHU012058 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU037214 http://purl.bioontology.org/ontology/OMIM/MTHU001436 See more See less
tui	T047
Gene Locus	11p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608978
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1837026
OMIM Entry Type	3
OMIM MimType Value	pound

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