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Meacham syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
Uniprot Description Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.
Mondo Term and Equivalent IDs
MONDO:0012164:  Meacham syndrome
GARD:0003432: 
Orphanet:3097: 
SCTID:722461004: 
UMLS:C1837026: