| Metadata | |
|---|---|
| ID | DOID:0050475 |
| Name | Weill-Marchesani syndrome |
| Definition | A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:205801004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
congenital mesodermal dystrophy [EXACT] GEMSS syndrome [EXACT] Marchesani-Weill Syndrome [EXACT] Mesodermal Dysmorphodystrophy, Congenital [EXACT] Spherophakia Brachymorphia Syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |