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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Fraser Syndrome
Eye Diseases > Eye Abnormalities > Fraser Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Eye Abnormalities > Fraser Syndrome
Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Fraser Syndrome
Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Fraser Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Fraser Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Synostosis > Syndactyly > Fraser Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Synostosis > Syndactyly > Fraser Syndrome
... > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Synostosis > Syndactyly > Fraser Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Limb Deformities, Congenital > Syndactyly > Fraser Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Limb Deformities, Congenital > Syndactyly > Fraser Syndrome

Preferred term

Fraser Syndrome  

Type

  • mesh:Descriptor

Definition

  • Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Broader concept

Related concepts

Entry terms

  • Cryptophthalmos-Syndactyly Syndrome
  • Cryptophthalmos with Other Malformations

Allowable Qualifier(s)

In other languages

  • Syndrome de Fraser

    French

  • Cryptophtalmie associée à d'autres malformations
  • Syndrome cryptophtalmie-syndactylie
  • Syndrome de cryptophtalmie-syndactylie

URI

http://data.loterre.fr/ark:/67375/JVR-SS6GK14X-9

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RDF/XML TURTLE JSON-LD Created 6/25/10, last modified 6/30/21