About: Rett syndrome

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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	pervasive developmental disorder
label	Rett 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:1206
database_cross_reference	GARD:5696 ICD10CM:F84.2 MESH:D015518 NCI:C75488 OMIM:312750 OMIM:613454 SNOMEDCT_US_2021_09_01:192583003 UMLS_CUI:C0035372
has_exact_synonym	Rett's disorder (en) cerebroatrophic hyperammonemia (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50948138

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