Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

OROFACIAL CLEFT 5
Synonyms

OFC5

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5

ID

http://purl.bioontology.org/ontology/OMIM/608874

altLabel

OFC5

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5

cui

C1837210

Gene Locus

4p16.1

Gene Symbol

MSX1

ECTD3

HOX7

HYD1

STHAG1

OFC5

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU071702

http://purl.bioontology.org/ontology/OMIM/MTHU001581

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

608874

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

OROFACIAL CLEFT 5

Scope Statement

Caused by mutation in the MSH homeobox 1 gene (MSX1, 142983.0004) [MOLECULAR BASIS]

tui

T047

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