About: asphyxiating thoracic dystrophy

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	bone development disease
label	asphyxiating thoracic dystrophy
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050592
database_cross_reference	ICD10CM:Q77.2 OMIM:PS208500 ORDO:474
has_exact_synonym	short-rib thoracic dysplasia with or without polydactyly (en) Jeune syndrome (en) thoracic pelvic phalangeal dystrophy (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
is subClassOf of	short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 19 with or without polydactyly asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy 5 short-rib thoracic dysplasia 7 with or without polydactyly short-rib thoracic dysplasia 10 with or without polydactyly short-rib thoracic dysplasia 6 with or without polydactyly short-rib thoracic dysplasia 13 with or without polydactyly short-rib thoracic dysplasia 8 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly short-rib thoracic dysplasia 14 with polydactyly short-rib thoracic dysplasia 9 with or without polydactyly
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937181

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