Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Nasodigitoacoustic_syndrome> ?p ?o. }
Showing items 1 to 56 of
56
with 100 items per page.
- Nasodigitoacoustic_syndrome abstract "Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a mishaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay. It is believed to be inherited in an X-linked recessive manner, which means a genetic mutation causing the disorder is located on the X chromosome, and while two copies of the mutated gene must be inherited for a female to be born with the disorder, just one copy is sufficient to cause a male to be born with the disorder. Nasodigitoacoustic syndrome is likely caused by a mutated gene located on the X chromosome between positions Xq22.2–q28. The incidence of the syndrome has not been determined, but it is considered to affect less than 200,000 people in the United States, and no greater than 1 per 2,000 in Europe. It is similar to Keutel, Muenke, Rubinstein and Teunissen-Cremers syndrome.".
- Nasodigitoacoustic_syndrome icd10 "Q89.8".
- Nasodigitoacoustic_syndrome icd9 "759.7".
- Nasodigitoacoustic_syndrome omim "255980".
- Nasodigitoacoustic_syndrome thumbnail Scheme_human_hand_bones-en.svg?width=300.
- Nasodigitoacoustic_syndrome wikiPageExternalLink Nasodigitoacoustic_syndrome.aspx.
- Nasodigitoacoustic_syndrome wikiPageExternalLink Disease_Search.php?lng=EN&data_id=2433&disease=Keipert-syndrome&search=Disease_Search_Simple.
- Nasodigitoacoustic_syndrome wikiPageID "31339398".
- Nasodigitoacoustic_syndrome wikiPageRevisionID "485515131".
- Nasodigitoacoustic_syndrome hasPhotoCollection Nasodigitoacoustic_syndrome.
- Nasodigitoacoustic_syndrome icd "759.7".
- Nasodigitoacoustic_syndrome icd "Q89.8".
- Nasodigitoacoustic_syndrome name "Nasodigitoacoustic syndrome".
- Nasodigitoacoustic_syndrome omim "255980".
- Nasodigitoacoustic_syndrome subject Category:Congenital_disorders.
- Nasodigitoacoustic_syndrome subject Category:Rare_diseases.
- Nasodigitoacoustic_syndrome subject Category:Syndromes.
- Nasodigitoacoustic_syndrome subject Category:X-linked_recessive_disorders.
- Nasodigitoacoustic_syndrome type Abnormality114501726.
- Nasodigitoacoustic_syndrome type Abstraction100002137.
- Nasodigitoacoustic_syndrome type Anomaly114505821.
- Nasodigitoacoustic_syndrome type Attribute100024264.
- Nasodigitoacoustic_syndrome type BirthDefect114465048.
- Nasodigitoacoustic_syndrome type Cognition100023271.
- Nasodigitoacoustic_syndrome type Complex105870365.
- Nasodigitoacoustic_syndrome type Concept105835747.
- Nasodigitoacoustic_syndrome type Condition113920835.
- Nasodigitoacoustic_syndrome type CongenitalDisorders.
- Nasodigitoacoustic_syndrome type Content105809192.
- Nasodigitoacoustic_syndrome type Defect114464005.
- Nasodigitoacoustic_syndrome type Disease114070360.
- Nasodigitoacoustic_syndrome type Disorder114052403.
- Nasodigitoacoustic_syndrome type Idea105833840.
- Nasodigitoacoustic_syndrome type IllHealth114052046.
- Nasodigitoacoustic_syndrome type Illness114061805.
- Nasodigitoacoustic_syndrome type Imperfection114462666.
- Nasodigitoacoustic_syndrome type PathologicalState114051917.
- Nasodigitoacoustic_syndrome type PhysicalCondition114034177.
- Nasodigitoacoustic_syndrome type PsychologicalFeature100023100.
- Nasodigitoacoustic_syndrome type State100024720.
- Nasodigitoacoustic_syndrome type Syndrome105870790.
- Nasodigitoacoustic_syndrome type Syndromes.
- Nasodigitoacoustic_syndrome type Whole105869584.
- Nasodigitoacoustic_syndrome type X-linkedRecessiveDisorders.
- Nasodigitoacoustic_syndrome type Disease.
- Nasodigitoacoustic_syndrome type Situation.
- Nasodigitoacoustic_syndrome comment "Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a mishaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay.".
- Nasodigitoacoustic_syndrome label "Nasodigitoacoustic syndrome".
- Nasodigitoacoustic_syndrome sameAs m.0gjdtyn.
- Nasodigitoacoustic_syndrome sameAs Q6967220.
- Nasodigitoacoustic_syndrome sameAs Q6967220.
- Nasodigitoacoustic_syndrome sameAs Nasodigitoacoustic_syndrome.
- Nasodigitoacoustic_syndrome wasDerivedFrom Nasodigitoacoustic_syndrome?oldid=485515131.
- Nasodigitoacoustic_syndrome depiction Scheme_human_hand_bones-en.svg.
- Nasodigitoacoustic_syndrome isPrimaryTopicOf Nasodigitoacoustic_syndrome.
- Nasodigitoacoustic_syndrome name "Nasodigitoacoustic syndrome".