About: Dyggve-Melchior-Clausen disease

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About: Dyggve-Melchior-Clausen disease Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	autosomal recessive disease spondyloepimetaphyseal dysplasia nodeID://b50944346 nodeID://b50944347
label	Dyggve-Melchior-Clausen disease
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111167
database_cross_reference	GARD:6295 OMIM:223800
has_exact_synonym	DMC disease (en) pseudo-Morquio disease type I (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.
is subClassOf of	Smith-McCort dysplasia
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944348

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