Preferred Name

multiple synostoses syndrome 2
Synonyms

SYNS2

GDF5 multiple synostoses syndrome

multiple synostoses syndrome caused by mutation in GDF5

multiple synostoses syndrome 2

multiple synostoses syndrome type 2

Definitions

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0012394

altLabel

SYNS2

GDF5 multiple synostoses syndrome

multiple synostoses syndrome caused by mutation in GDF5

multiple synostoses syndrome 2

multiple synostoses syndrome type 2

definition

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.

has_exact_synonym

GDF5 multiple synostoses syndrome

multiple synostoses syndrome caused by mutation in GDF5

multiple synostoses syndrome 2

multiple synostoses syndrome type 2

has_related_synonym

SYNS2

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

label

multiple synostoses syndrome 2

prefixIRI

MONDO:0012394

prefLabel

multiple synostoses syndrome 2

seeAlso

https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2

textual definition

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0800095

http://purl.obolibrary.org/obo/MONDO_0017923

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