About: short-rib thoracic dysplasia 10 with or without polydactyly

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

Attributes	Values
type	Class
subClassOf	asphyxiating thoracic dystrophy autosomal recessive disease nodeID://b50942497
label	short-rib thoracic dysplasia 10 with or without polydactyly
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110091
database_cross_reference	ICD10CM:Q77.2 ICD10CM:Q87.5 OMIM:615630
has_exact_synonym	SRTD10 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942498

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