Visualize Submit Comment
Metadata
ID DOID:0050475
Name Weill-Marchesani syndrome
Definition A syndrome characterized by short stature, bachycephaly 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

GARD:4936

MESH:D056846

NCI:C85226

OMIM:277600

OMIM:608328

OMIM:613195

OMIM:614819

ORDO:3449

SNOMEDCT_US_2019_09_01:2884008

UMLS_CUI:C0265313

UMLS_CUI:C1869114

UMLS_CUI:C1869115

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

is_a autosomal genetic disease

Add an item to the term tracker