Preferred Name

geleophysic dysplasia
Synonyms

geleophysic dwarfism syndrome

geleophysic dwarfism

Definitions

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

ID

http://purl.obolibrary.org/obo/MONDO_0000127

altLabel

geleophysic dwarfism syndrome

geleophysic dwarfism

definition

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

has_exact_synonym

geleophysic dwarfism

has_related_synonym

geleophysic dwarfism syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4666

label

geleophysic dysplasia

prefixIRI

MONDO:0000127

prefLabel

geleophysic dysplasia

textual definition

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019695

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