About: Eiken 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 recessive disease bone development disease nodeID://b50945368
label	Eiken syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111732
database_cross_reference	MESH:C564010 OMIM:600002 ORDO:79106 SNOMEDCT_US_2021_09_01:720863002 UMLS_CUI:C1838779
has_exact_synonym	Eiken skeletal dysplasia bone modeling defect of hands and feet
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945369

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