FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Weill-Marchesani syndrome ID (Ontology) DOID:0050475 (Human Disease)
Definition A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
Also Known As "congenital mesodermal dystrophy" ; "GEMSS syndrome" ; "Marchesani-Weill Syndrome" (for all, see Synonyms field below)
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 Genes
 Weill-Marchesani syndrome       3
 for disease ribbon | Weill-Marchesani syndrome       3
 model of | Weill-Marchesani syndrome       3
Spanning Tree (Parents/Children)
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monogenic disease
 |__autosomal genetic disease__
disease                        |
 |__syndrome___________________|
                               Weill-Marchesani syndrome  3 rec.
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Parents/Children
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Is a autosomal genetic disease
syndrome
Part of
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Synonyms
  • "congenital mesodermal dystrophy" EXACT
    "GEMSS syndrome" EXACT
    "Marchesani-Weill Syndrome" EXACT
    "Mesodermal Dysmorphodystrophy, Congenital" EXACT
    "Spherophakia Brachymorphia Syndrome" EXACT
Secondary IDs
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GARD:4936
MESH:D056846
MIM:277600
MIM:608328
MIM:613195
MIM:614819
MIM:PS277600
NCI:C85226
ORDO:3449
SNOMEDCT_US_2023_03_01:205801004
UMLS_CUI:C0265313
UMLS_CUI:C1869114
UMLS_CUI:C1869115