FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

asphyxiating thoracic dystrophy

Synonyms
Definitions

A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

ID

http://purl.obolibrary.org/obo/DOID_0050592

definition

A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

asphyxiating thoracic dystrophy

prefixIRI

DOID:0050592

prefLabel

asphyxiating thoracic dystrophy

subClassOf

http://purl.obolibrary.org/obo/DOID_0080006

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