Search Ontology:
Human Disease
Weill-Marchesani syndrome
- Term ID
- DOID:0050475
- Synonyms
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- 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
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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
- Ontology
- Human Disease ( DOID:0050475 )
- is a type of
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Genes Involved
Zebrafish Models