About: 3p deletion syndrome

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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 chromosomal deletion syndrome nodeID://b50938808 nodeID://b50938809
label	3p deletion syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060417
created_by	elvira
creation_date	2015-09-28T17:38:32Z
database_cross_reference	ICD10CM:Q93.5 OMIM:613792 ORDO:1620
has_exact_synonym	chromosome 3pter-P25 deletion syndrome (en) distal monosomy 3p (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938810

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