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Statements

Subject Item
dbr:Cooks_syndrome
rdf:type
dbo:Disease wikidata:Q12136 yago:Disease114070360 yago:Illness114061805 yago:Abstraction100002137 yago:State100024720 yago:PhysicalCondition114034177 yago:PathologicalState114051917 yago:IllHealth114052046 yago:Attribute100024264 owl:Thing yago:Condition113920835 yago:GeneticDisease114151139 yago:WikicatGeneticDisordersWithNoOMIM
rdfs:label
Cooks syndrome
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.
foaf:name
Cooks syndrome
dbp:name
Cooks syndrome
foaf:depiction
n4:Autosomal_dominant_-_en.svg
dct:subject
dbc:Rare_syndromes dbc:Genetic_disorders_with_no_OMIM
dbo:wikiPageID
23463207
dbo:wikiPageRevisionID
1013723750
dbo:wikiPageWikiLink
dbr:Little_finger dbr:Mental_retardation dbc:Rare_syndromes dbr:Intermediate_phalanges dbr:Index_finger dbr:Onychodystrophy dbr:Distal_phalanges dbr:Proximal_phalanges dbr:Anonychia dbr:Middle_finger dbr:Hypoplasia dbr:Metacarpals dbr:Ring_finger dbr:Autosomal_dominant dbr:Thumb dbc:Genetic_disorders_with_no_OMIM dbr:Brachydactyly
owl:sameAs
wikidata:Q5167190 yago-res:Cooks_syndrome freebase:m.06w5xrj n19:4iPKK
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dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
dbo:thumbnail
n4:Autosomal_dominant_-_en.svg?width=300
dbp:icd
Q84.6
dbp:omim
106995
dbp:orphanet
1487
dbp:caption
Autosomal dominant is the manner of inheritance of this condition
dbp:synonyms
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
dbo: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.
gold:hypernym
dbr:Disorder
prov:wasDerivedFrom
wikipedia-en:Cooks_syndrome?oldid=1013723750&ns=0
dbo:wikiPageLength
4353
dbo:icd10
Q84.6
dbo:omim
106995
dbo:orpha
1487
foaf:isPrimaryTopicOf
wikipedia-en:Cooks_syndrome