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Items: 3

1.

Cleft lip/palate-ectodermal dysplasia syndrome

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. [from SNOMEDCT_US]

MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
2.

Orofacial cleft 7

MedGen UID:
371589
Concept ID:
C1833538
Disease or Syndrome
3.

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7

MedGen UID:
341680
Concept ID:
C1857043
Congenital Abnormality; Disease or Syndrome
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