Terminology Service for NFDI4Health
Weill-Marchesani syndrome
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http://purl.obolibrary.org/obo/DOID_0050475
A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Weill-Marchesani syndrome
Synonyms
- GEMSS syndrome
- Marchesani-Weill Syndrome
- Mesodermal Dysmorphodystrophy, Congenital
- Spherophakia Brachymorphia Syndrome
- congenital mesodermal dystrophy
Subsets
DO_rare_slim, NCIthesaurus
comment
Xref MGI. OMIM mapping confirmed by DO. [LS].
has obo namespace
disease_ontology
id
DOID:0050475