About: Cornelia de Lange syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Xref MGI. OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	monogenic disease syndrome nodeID://b50947936
label	Cornelia de Lange syndrome
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:11725
database_cross_reference	ICD10CM:Q87.19 GARD:10109 MESH:D003635 NCI:C75016 OMIM:PS122470 ORDO:199 SNOMEDCT_US_2021_09_01:40354009 UMLS_CUI:C0270972
has_exact_synonym	Brachmann de Lange syndrome (en) De Lange syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
is subClassOf of	Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome 4 Cornelia de Lange syndrome 5
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50947937

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