About: Adducted thumb syndrome

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Adducted thumb syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org:8891 associated with source document(s)
QRcode icon

http://dbpedia.org:8891/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FAdducted_thumb_syndrome

Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Adducted thumb syndrome (en) متلازمة الإبهام المقرب (ar)
rdfs:comment	متلازمة الإبهام المقرب المتنحية أو متلازمة كريستيان هو مرض نادر يؤثر على أنظمة متعددة مما تسبب في تشوهات الحنك، والإبهام، والأطراف العلوية. اسم المتلازمة مستمد من جو كريستيان، أول شخص وصف الحالة. ويعتقد أنها حاله وراثيه، والناجمة عن طفرة في الجين CHST14 (الكربوهيدرات سولفوترانزفيراس 14). (ar) Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene. (en)
foaf:name	Adducted thumb syndrome (en)
name	Adducted thumb syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare diseases Syndromes Genetic disorders with OMIM but no gene
Wikipage page ID	190455 (xsd:integer)
Wikipage revision ID	1122393141 (xsd:integer)
Link from a Wikipage to another Wikipage	Facial cleft Bone Arachnodactyly Rare disease Cleft palate Autosomal recessive disorders Club foot Autosomal recessive Adams–Oliver syndrome Joint Adduction Psychomotor learning Rare diseases Hypertrichosis Moro reflex Arthrogryposis Syndromes Genetic disorders with OMIM but no gene Tetrasomy 18p Pneumonia Intellectual disability Microcephaly Camptodactyly Seizures CHST14 White matter List of cutaneous conditions Talipes equinovarus
Link from a Wikipage to an external page	http://www.whonamedit.com/synd.cfm/1193.html
sameAs	Adducted thumb syndrome Adducted thumb syndrome Adducted thumb syndrome Adducted thumb syndrome Adducted thumb syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:Phakomatoses_and_other_congenital_malformations_not_elsewhere_classified
thumbnail	wiki-commons:Special:FilePath/autorecessive.svg?width=300
DiseasesDB	31689 (xsd:integer)
OMIM	201550 (xsd:integer)
caption	Adducted thumb syndrome has a lysosomal recessive pattern of inheritance (en)
causes	mutation in the CHST14 gene (en)
synonyms	Christian syndrome, craniostenosis arthrogryposis cleft palate (en)
has abstract	متلازمة الإبهام المقرب المتنحية أو متلازمة كريستيان هو مرض نادر يؤثر على أنظمة متعددة مما تسبب في تشوهات الحنك، والإبهام، والأطراف العلوية. اسم المتلازمة مستمد من جو كريستيان، أول شخص وصف الحالة. ويعتقد أنها حاله وراثيه، والناجمة عن طفرة في الجين CHST14 (الكربوهيدرات سولفوترانزفيراس 14). (ar) Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene. (en)
medical cause	CHST14
gold:hypernym	Disease
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
prov:wasDerivedFrom	wikipedia-en:Adducted_thumb_syndrome?oldid=1122393141&ns=0
page length (characters) of wiki page	4838 (xsd:nonNegativeInteger)
DiseasesDB	31689
OMIM id	201550 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Adducted_thumb_syndrome
is Link from a Wikipage to another Wikipage of	Aqueductal stenosis Brachydactyly-preaxial hallux varus syndrome Congenital clasped thumb List of syndromes

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Sep 2 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (62 GB total memory, 41 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software