About: Kleefstra syndrome 1

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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 Kleefstra syndrome nodeID://b50938692 nodeID://b50938697
label	Kleefstra syndrome 1
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060352
created_by	elvira
creation_date	2015-07-14T16:49:09Z
has_alternative_id	DOID:0070075
database_cross_reference	GARD:8672 MESH:C563043 NCI:C129976 OMIM:610253 ORDO:261494 SNOMEDCT_US_2021_09_01:724207001 UMLS_CUI:C0795833
has_exact_synonym	9q subtelomeric deletion syndrome (en) 9q-syndrome (en) 9q34 deletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938698

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