Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

asphyxiating thoracic dystrophy

Synonyms

thoracic pelvic phalangeal dystrophy

Jeune syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. 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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:Q77.2

OMIM:PS208500

ORDO:474

has exact synonym

thoracic pelvic phalangeal dystrophy

short-rib thoracic dysplasia with or without polydactyly

Jeune syndrome

has_obo_namespace

disease_ontology

id

DOID:0050592

in_subset

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

label

asphyxiating thoracic dystrophy

notation

DOID:0050592

prefLabel

asphyxiating thoracic dystrophy

textual definition

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

subClassOf

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

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