About: acromesomelic dysplasia, Maroteaux type

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About: acromesomelic dysplasia, Maroteaux type Goto Sponge Distinct Permalink

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 recessive disease spinal disease acromesomelic dysplasia nodeID://b50940292 nodeID://b50940293 nodeID://b50940294
label	acromesomelic dysplasia, Maroteaux type
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:0080050
database_cross_reference	MESH:C535661 OMIM:602875 ORDO:40
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940295

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