Preferred Name

OROFACIAL CLEFT 5

Synonyms

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5

ID

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

altLabel

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5

OFC5

cui

C1837210

Gene Locus

4p16.1

Gene Symbol

HOX7

STHAG1

HYD1

OFC5

MSX1

ECTD3

Has manifestation

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

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

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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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0012142 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C563843 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C563843 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0080399 Human Disease Ontology / 人类疾病本体 LOOM