Data Portal @ linkeddatafragments.org

Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Malpuech_facial_clefting_syndrome> ?p ?o. }

• Malpuech_facial_clefting_syndrome abstract "Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal malformations may also be present. The syndrome was initially described by Guilliaume Malpuech and associates in 1983. It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. Mutations in the COLLEC11 and MASP1 genes are believed to be a cause of these syndromes. The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited.".
• Malpuech_facial_clefting_syndrome icd10 "Q89.8".
• Malpuech_facial_clefting_syndrome icd9 "759.7".
• Malpuech_facial_clefting_syndrome omim "248340".
• Malpuech_facial_clefting_syndrome thumbnail 13900470_3PREOPERATION0.jpg?width=300.
• Malpuech_facial_clefting_syndrome wikiPageID "30542186".
• Malpuech_facial_clefting_syndrome wikiPageRevisionID "546085527".
• Malpuech_facial_clefting_syndrome align "right".
• Malpuech_facial_clefting_syndrome caption "A typical cleft lip, seen in a five-month-old infant.".
• Malpuech_facial_clefting_syndrome caption "The bilateral type of cleft lip has been reported in Malpuech syndrome.".
• Malpuech_facial_clefting_syndrome direction "vertical".
• Malpuech_facial_clefting_syndrome hasPhotoCollection Malpuech_facial_clefting_syndrome.
• Malpuech_facial_clefting_syndrome icd "759.7".
• Malpuech_facial_clefting_syndrome icd "Q89.8".
• Malpuech_facial_clefting_syndrome image "139004703".
• Malpuech_facial_clefting_syndrome image "CleftLip3.png".
• Malpuech_facial_clefting_syndrome name "Malpuech facial clefting syndrome".
• Malpuech_facial_clefting_syndrome omim "248340".
• Malpuech_facial_clefting_syndrome width "150".
• Malpuech_facial_clefting_syndrome subject Category:Autosomal_recessive_disorders.
• Malpuech_facial_clefting_syndrome subject Category:Congenital_disorders.
• Malpuech_facial_clefting_syndrome subject Category:Rare_diseases.
• Malpuech_facial_clefting_syndrome subject Category:Syndromes.
• Malpuech_facial_clefting_syndrome type Abnormality114501726.
• Malpuech_facial_clefting_syndrome type Abstraction100002137.
• Malpuech_facial_clefting_syndrome type Anomaly114505821.
• Malpuech_facial_clefting_syndrome type Attribute100024264.
• Malpuech_facial_clefting_syndrome type AutosomalRecessiveDisorders.
• Malpuech_facial_clefting_syndrome type BirthDefect114465048.
• Malpuech_facial_clefting_syndrome type Cognition100023271.
• Malpuech_facial_clefting_syndrome type Complex105870365.
• Malpuech_facial_clefting_syndrome type Concept105835747.
• Malpuech_facial_clefting_syndrome type Condition113920835.
• Malpuech_facial_clefting_syndrome type CongenitalDisorders.
• Malpuech_facial_clefting_syndrome type Content105809192.
• Malpuech_facial_clefting_syndrome type Defect114464005.
• Malpuech_facial_clefting_syndrome type Disease114070360.
• Malpuech_facial_clefting_syndrome type Disorder114052403.
• Malpuech_facial_clefting_syndrome type Idea105833840.
• Malpuech_facial_clefting_syndrome type IllHealth114052046.
• Malpuech_facial_clefting_syndrome type Illness114061805.
• Malpuech_facial_clefting_syndrome type Imperfection114462666.
• Malpuech_facial_clefting_syndrome type PathologicalState114051917.
• Malpuech_facial_clefting_syndrome type PhysicalCondition114034177.
• Malpuech_facial_clefting_syndrome type PsychologicalFeature100023100.
• Malpuech_facial_clefting_syndrome type State100024720.
• Malpuech_facial_clefting_syndrome type Syndrome105870790.
• Malpuech_facial_clefting_syndrome type Syndromes.
• Malpuech_facial_clefting_syndrome type Whole105869584.
• Malpuech_facial_clefting_syndrome type Disease.
• Malpuech_facial_clefting_syndrome type Situation.
• Malpuech_facial_clefting_syndrome comment "Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia.".
• Malpuech_facial_clefting_syndrome label "Malpuech facial clefting syndrome".
• Malpuech_facial_clefting_syndrome sameAs m.0g9wh2w.
• Malpuech_facial_clefting_syndrome sameAs Q6744609.
• Malpuech_facial_clefting_syndrome sameAs Q6744609.
• Malpuech_facial_clefting_syndrome sameAs Malpuech_facial_clefting_syndrome.
• Malpuech_facial_clefting_syndrome wasDerivedFrom Malpuech_facial_clefting_syndrome?oldid=546085527.
• Malpuech_facial_clefting_syndrome depiction 13900470_3PREOPERATION0.jpg.
• Malpuech_facial_clefting_syndrome isPrimaryTopicOf Malpuech_facial_clefting_syndrome.
• Malpuech_facial_clefting_syndrome name "Malpuech facial clefting syndrome".