About: spondylometaphyseal dysplasia with cone-rod dystrophy

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About: spondylometaphyseal dysplasia with cone-rod dystrophy 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 spondylometaphyseal dysplasia nodeID://b50946463
label	spondylometaphyseal dysplasia with cone-rod dystrophy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112300
database_cross_reference	GARD:10647 MESH:C563825 OMIM:608940 ORDO:85167 UMLS_CUI:C1837073
has_exact_synonym	SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in PCYT1A on chromosome 3q29.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946464

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