About: achondrogenesis type II

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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	autosomal dominant disease spinal disease achondrogenesis nodeID://b50940307 nodeID://b50940308
label	achondrogenesis type II
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:0080056
database_cross_reference	GARD:8713 OMIM:200610
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940309

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