About: spondyloepiphyseal dysplasia Maroteaux type

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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	autosomal dominant disease spondyloepiphyseal dysplasia nodeID://b50945042
label	spondyloepiphyseal dysplasia Maroteaux type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111553
database_cross_reference	GARD:994 OMIM:184095 ORDO:263482 SNOMEDCT_US_2021_09_01:719204007 UMLS_CUI:C3159322
has_exact_synonym	Brachyolmia Type 2 (en) Pseudo-Morquio syndrome type 2 (en) SED, Maroteaux type (en) spondyloepiphyseal dysplasia of Maroteaux (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945043

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