About: Torrance type platyspondylic dysplasia

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About: Torrance type platyspondylic dysplasia 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	osteochondrodysplasia
label	Torrance type platyspondylic dysplasia
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111508
database_cross_reference	GARD:4382 MESH:C563627 OMIM:151210 ORDO:85166 UMLS_CUI:C1835437
has_exact_synonym	PLSD-T (en) PLSDT (en) platyspondylic lethal skeletal dysplasia, Torrance type (en) platyspondylic dysplasia, Torrance-Luton type (en) thanatophoric dysplasia, Torrance variant (en) lethal short-limbed platyspondylic dwarfism, Torrance type (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944949

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