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DO Term : Weill-Marchesani syndrome [DOID:0050475] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

synonyms:
MESH:D056846,
608328,
OMIM:614819,
GEMSS syndrome,
OMIM:613195,
277600,
GARD:4936,
SNOMEDCT_US_2023_03_01:205801004,
OMIM:608328,
PS277600,
UMLS_CUI:C1869114,
congenital mesodermal dystrophy,
614819,
NCI:C85226,
ORDO:3449,
OMIM:277600,
OMIM:PS277600,
Mesodermal Dysmorphodystrophy, Congenital,
Spherophakia Brachymorphia Syndrome,
UMLS_CUI:C0265313,
613195,
UMLS_CUI:C1869115,
Marchesani-Weill Syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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