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1.

Fraser syndrome 1

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations. [from OMIM]

MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
2.

Abnormal small intestine morphology

A structural abnormality of the small intestine. [from HPO]

MedGen UID:
871236
Concept ID:
C4025717
Anatomical Abnormality

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