Search Ontology:
Human Disease

Weill-Marchesani syndrome

Term ID
DOID:0050475
Synonyms
  • congenital mesodermal dystrophy
  • GEMSS syndrome
  • Marchesani-Weill Syndrome
  • Mesodermal Dysmorphodystrophy, Congenital
  • Spherophakia Brachymorphia Syndrome
Definition
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (2)
References
Ontology
Human Disease   ( DOID:0050475 )
Relationships
is a type of
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Genes Involved
Zebrafish Models