Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
Preferred Name

multiple synostoses syndrome
Synonyms
Definitions

A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.

ID

http://purl.obolibrary.org/obo/DOID_0050794

created by

lschriml

creation_date

2013-11-12T01:08:42Z

database_cross_reference

MIM:PS186500

ORDO:3237

definition

A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0050794

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

multiple synostoses syndrome

notation

DOID:0050794

note

A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.

preferred label

multiple synostoses syndrome

prefLabel

multiple synostoses syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_1934

http://purl.obolibrary.org/obo/DOID_0050736

Delete Subject Author Type Created
No notes to display