About: fragile X 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	X-linked dominant disease syndrome nodeID://b50949515
label	fragile X 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:14261
database_cross_reference	GARD:6464 ICD10CM:Q99.2 ICD9CM:759.83 MESH:D005600 NCI:C84717 OMIM:300624 ORDO:908 SNOMEDCT_US_2021_09_01:390007001 UMLS_CUI:C0016667
has_exact_synonym	FRAGILE X MENTAL RETARDATION SYNDROME (en) MARKER X SYNDROME (en) MARTIN-BELL SYNDROME (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949516

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