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Statements

Subject Item
dbr:MASA_syndrome
rdf:type
yago:Complex105870365 yago:Attribute100024264 yago:State100024720 umbel-rc:AilmentCondition yago:Concept105835747 yago:WikicatSyndromes yago:Idea105833840 yago:Whole105869584 yago:Abstraction100002137 yago:IllHealth114052046 yago:PathologicalState114051917 yago:Illness114061805 yago:Disease114070360 yago:Cognition100023271 yago:Condition113920835 yago:Syndrome105870790 owl:Thing dbo:Disease wikidata:Q12136 yago:WikicatX-linkedRecessiveDisorders yago:PsychologicalFeature100023100 yago:PhysicalCondition114034177 yago:Disorder114052403 yago:Content105809192
rdfs:label
L1CAM-Syndrom متلازمة جاريس ميسون MASA syndrome Syndrome L1
rdfs:comment
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome. Le syndrome L1 regroupe les manifestations liées à la mutation du gène L1CAM Il est caractérisé par l’association des traits suivants : * Hydrocéphalie ; * Retard mental ; * Tonicité augmentée des muscles des jambes (spasticité) ; * Pouce en adduction. Les manifestations cliniques de la mutation du gène L1CAM comprennent : * Hydrocéphalie liée à l'X ; * Syndrome M.A.S.A (Mental retardation, Aphasie, Spasticité, Adduction des pouces) ; * Paraplégie spastique familiale de type 1 ; * Agénésie du corps calleux lié à l’X. Das L1CAM-Syndrom oder L1-Syndrom ist eine sehr seltene x-chromosomal vererbliche Erkrankung mit einer Kombination von adduziertem Daumen, Spastik und unterschiedlichen Hirnveränderungen. Synonyme sind: CRASH-Syndrom (Akronym für Corpus-Callosum-Hypoplasie, (geistige) Retardierung, Adduzierte Daumen, Spastische Paraplegie und Hydrozephalus); Gareis-Mason-Syndrom متلازمة جاريس ميسون، أو متلازمة كراش، أو متلازمة الشلل النصفي التشنجي هي حالة عصبية وراثية نادرة منقولة على كروموسوم إكس بصورة متنحية.
foaf:name
MASA syndrome
dbp:name
MASA syndrome
foaf:depiction
n15:X-linked_recessive_(carrier_mother).svg
dcterms:subject
dbc:X-linked_recessive_disorders dbc:Syndromes_affecting_the_nervous_system dbc:Syndromes_with_intellectual_disability dbc:Rare_syndromes
dbo:wikiPageID
869927
dbo:wikiPageRevisionID
1110250115
dbo:wikiPageWikiLink
dbr:Gene dbr:Genetic_carrier dbr:Shuffling_gait dbr:Mental_retardation dbr:Hereditary_spastic_paraplegia dbr:Genetics dbr:Spasticity dbr:X-linked_recessive dbr:X-linked_recessive_inheritance dbr:X_chromosome dbr:Corpus_callosum dbr:Hydrocephalus dbr:L1_syndrome dbc:Syndromes_affecting_the_nervous_system dbc:Syndromes_with_intellectual_disability dbr:L1CAM dbr:Neurology dbr:Congenital_clasped_thumb dbc:Rare_syndromes dbr:Aphasia dbr:Mutation dbc:X-linked_recessive_disorders
dbo:wikiPageExternalLink
n24:
owl:sameAs
dbpedia-ar:متلازمة_جاريس_ميسون n16:4qpQp yago-res:MASA_syndrome freebase:m.03k5bd wikidata:Q6714500 n22:725 n22:720 n22:722 dbpedia-fr:Syndrome_L1 dbpedia-de:L1CAM-Syndrom
dbp:wikiPageUsesTemplate
dbt:Reflist dbt:Medical_resources dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:RareDiseases dbt:X-linked_disorders
dbo:thumbnail
n15:X-linked_recessive_(carrier_mother).svg?width=300
dbp:icd
G11.4
dbp:meshid
536029.0
dbp:omim
303350
dbp:orphanet
2466
dbp:caption
This condition is inherited in an X-linked recessive manner.
dbp:field
dbr:Neurology
dbp:synonyms
Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome
dbo:abstract
متلازمة جاريس ميسون، أو متلازمة كراش، أو متلازمة الشلل النصفي التشنجي هي حالة عصبية وراثية نادرة منقولة على كروموسوم إكس بصورة متنحية. Le syndrome L1 regroupe les manifestations liées à la mutation du gène L1CAM Il est caractérisé par l’association des traits suivants : * Hydrocéphalie ; * Retard mental ; * Tonicité augmentée des muscles des jambes (spasticité) ; * Pouce en adduction. Les manifestations cliniques de la mutation du gène L1CAM comprennent : * Hydrocéphalie liée à l'X ; * Syndrome M.A.S.A (Mental retardation, Aphasie, Spasticité, Adduction des pouces) ; * Paraplégie spastique familiale de type 1 ; * Agénésie du corps calleux lié à l’X. Le syndrome L1 était autrefois appelé C.R.A.S.H syndrome (Corps calleux agénésie, Retard mental, Adduction des pouces, Spasticité et hydrocéphalie) Ce terme ne doit plus être utilisé. Das L1CAM-Syndrom oder L1-Syndrom ist eine sehr seltene x-chromosomal vererbliche Erkrankung mit einer Kombination von adduziertem Daumen, Spastik und unterschiedlichen Hirnveränderungen. Synonyme sind: CRASH-Syndrom (Akronym für Corpus-Callosum-Hypoplasie, (geistige) Retardierung, Adduzierte Daumen, Spastische Paraplegie und Hydrozephalus); Gareis-Mason-Syndrom MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.
dbp:genereviewsname
L1 Syndrome
dbp:genereviewsnbk
NBK1484
dbo:geneReviewsId
NBK1484
dbo:geneReviewsName
L1 Syndrome
gold:hypernym
n20:039;
dbo:meshId
C536029
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wikipedia-en:MASA_syndrome?oldid=1110250115&ns=0
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foaf:isPrimaryTopicOf
wikipedia-en:MASA_syndrome