About: Ehlers-Danlos syndrome classic type 1

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

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease Ehlers-Danlos syndrome nodeID://b50949728
label	Ehlers-Danlos syndrome classic type 1
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14720
database_cross_reference	MESH:C536194 NCI:C125696 OMIM:130000 SNOMEDCT_US_2021_09_01:83470009 UMLS_CUI:C0268335
has_exact_synonym	Ehlers-Danlos syndrome, type 1 (en) type I Ehlers-Danlos syndrome
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949729

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