About: Bjornstad syndrome

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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. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome nodeID://b50937375
label	Bjornstad syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050677
database_cross_reference	GARD:22 MESH:C537633 OMIM:262000 ORDO:123 SNOMEDCT_US_2021_09_01:67817003 UMLS_CUI:C0266006
has_exact_synonym	BJS (en) PTD (en) deafness-pili torti-hypogonadism syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937376

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