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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/225060
http://purl.bioontology.org/ontology/OMIM/225060
Preferred Name

CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
Synonyms
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7
CLPED1
ZLOTOGORA-OGUR SYNDROME
ED4
ECTODERMAL DYSPLASIA, TYPE 4
ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY
OFC7
OROFACIAL CLEFT 7
ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7
CLPED1
ZLOTOGORA-OGUR SYNDROME
ED4
ECTODERMAL DYSPLASIA, TYPE 4
ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY
OFC7
OROFACIAL CLEFT 7
ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE
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prefLabel
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
Gene Symbol
NECTIN1
PVRR1
CLPED1
PVRL1
OFC7
HVEC
PRR1
ED4
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notation
225060
Scope Statement
Allelic disorder to the Zlotogora-Ogur syndrome (225000) [MISCELLANEOUS]
Caused by mutation in the poliovirus receptor-like 1 gene (PVRL1, 600644.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU013231
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU001150
http://purl.bioontology.org/ontology/OMIM/MTHU000229
http://purl.bioontology.org/ontology/OMIM/MTHU009963
http://purl.bioontology.org/ontology/OMIM/MTHU013229
http://purl.bioontology.org/ontology/OMIM/MTHU036695
http://purl.bioontology.org/ontology/OMIM/MTHU013232
http://purl.bioontology.org/ontology/OMIM/MTHU013233
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU013227
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU002944
http://purl.bioontology.org/ontology/OMIM/MTHU013230
http://purl.bioontology.org/ontology/OMIM/MTHU013228
http://purl.bioontology.org/ontology/OMIM/MTHU006062
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
11q23-q24
tui
T047
T019
cui
C1833538
C2931488
C1857043
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