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
  • GARD:4936
  • MESH:D056846
  • MIM:PS277600
  • NCI:C85226
  • ORDO:3449
  • SNOMEDCT_US_2025_09_01:205801004
  • UMLS_CUI:C0265313
  • UMLS_CUI:C1869114
  • UMLS_CUI:C1869115
Ontology
Human Disease   ( DOID:0050475 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.