About: MASA syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

NT MGI.

Attributes	Values
type	Class
subClassOf	X-linked recessive disease hereditary spastic paraplegia nodeID://b50938533
label	MASA syndrome
comment	NT MGI.
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060246
created_by	emitraka
creation_date	2015-01-28T16:49:53Z
database_cross_reference	GARD:6986 MESH:C536029 NCI:C129930 OMIM:303350 ORDO:2466 SNOMEDCT_US_2021_09_01:716996008 UMLS_CUI:C0795953
has_exact_synonym	CRASH syndrome (en) Gareis-Mason syndrome (en) L1 syndrome (en) SPG1 (en) X-linked corpus callosum agenesis (en) X-linked spastic paraplegia 1 (en) hereditary spastic paraplegia 1 (en) X-linked complicated hereditary spastic paraplegia type 1 (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938534

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