About: Cooks syndrome

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Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected.

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisordersWithNoOMIM disease yago:State100024720
rdfs:label	Cooks syndrome (en)
rdfs:comment	Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected. (en)
foaf:name	Cooks syndrome (en)
name	Cooks syndrome (en)
foaf:depiction
dcterms:subject	Genetic disorders with no OMIM Rare syndromes
Wikipage page ID	23463207 (xsd:integer)
Wikipage revision ID	1013723750 (xsd:integer)
Link from a Wikipage to another Wikipage	Middle finger Index finger Ring finger Metacarpals Proximal phalanges Brachydactyly Anonychia Autosomal dominant Genetic disorders with no OMIM Rare syndromes Hypoplasia Thumb Distal phalanges Mental retardation Little finger Intermediate phalanges Onychodystrophy
sameAs	Cooks syndrome Cooks syndrome Cooks syndrome Cooks syndrome
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
ICD	Q84.6 (en)
OMIM	106995 (xsd:integer)
Orphanet	1487 (xsd:integer)
caption	Autosomal dominant is the manner of inheritance of this condition (en)
synonyms	Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome (en)
has abstract	Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected. The disorder was first described by Cooks et al. in 1985 after being discovered in two generations of one family. It was proposed that the inheritance of the disorder is autosomal dominant. A second family, this with three affected generations, confirmed that the inheritance of the disorder is autosomal dominant. Although several genetic disorders exist which can cause anonychia and onychodystrophy, such disorders often cause other anomalies such as deafness, mental retardation, and defects of the hair, eyes, and teeth. Cooks syndrome is not known to cause any such anomalies. In 1999, a pair of siblings was found with brachydactyly type B. Because the disorder primarily affected the nails and distal phalanges, the research group concluded that brachydactyly type B and Cooks syndrome are the same disorder. However, in 2007, a 2-year-old girl was found with symptoms consistent with both brachydactyly type B and Cooks syndrome. It was found that the two syndromes were distinct clinically, radiologically, and genetically. (en)
gold:hypernym	Disorder
prov:wasDerivedFrom	wikipedia-en:Cooks_syndrome?oldid=1013723750&ns=0
page length (characters) of wiki page	4353 (xsd:nonNegativeInteger)
ICD10	Q84.6
OMIM id	106995 (xsd:integer)
ORPHA	1487
foaf:isPrimaryTopicOf	wikipedia-en:Cooks_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (C) Topologically associating domain List of syndromes
is foaf:primaryTopic of	wikipedia-en:Cooks_syndrome

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