Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Multiple synostoses syndrome 2
Synonyms

SYNS2

Definitions

(SYNS2) - A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

ID

http://identifiers.org/omim/610017

altLabel

SYNS2

definition

(SYNS2) - A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

id

OMIM:610017

notation

OMIM:610017

prefLabel

Multiple synostoses syndrome 2

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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