About: Hajdu-Cheney syndrome

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About: Hajdu-Cheney syndrome Goto Sponge Distinct Permalink

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease bone disease nodeID://b50951121
label	Hajdu-Cheney 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:2736
has_alternative_id	DOID:2735
database_cross_reference	GARD:508 MESH:D030981 MESH:D031845 NCI:C35545 NCI:C84745 OMIM:102500 SNOMEDCT_US_2021_09_01:63122002 UMLS_CUI:C0917715 UMLS_CUI:C0917990
has_exact_synonym	Cheney syndrome (en) HJCYS (en) SFPKS (en) arthrodentoosteodysplasia (en) acroosteolysis with osteoporosis and changes in skull and mandible (en) serpentine fibula-polycystic kidney syndrome (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951122

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