Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

orofacial cleft 5
Synonyms

cleft lip with or without cleft palate, nonsyndromic, 5

OFC5

MSX1 orofacial cleft

orofacial cleft type 5

orofacial cleft 5

orofacial cleft caused by mutation in MSX1

Definitions

Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0012142

database_cross_reference

DOID:0080399

UMLS:C1837210

MESH:C563843

OMIM:608874

MEDGEN:373280

GARD:18305

definition

Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.

exactMatch

https://omim.org/entry/608874

http://linkedlifedata.com/resource/umls/id/C1837210

http://identifiers.org/mesh/C563843

http://identifiers.org/medgen/373280

http://purl.obolibrary.org/obo/DOID_0080399

has_exact_synonym

MSX1 orofacial cleft

orofacial cleft type 5

orofacial cleft 5

orofacial cleft caused by mutation in MSX1

has_related_synonym

cleft lip with or without cleft palate, nonsyndromic, 5

OFC5

id

MONDO:0012142

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#gard_rare

label

orofacial cleft 5

notation

MONDO:0012142

preferred label

orofacial cleft 5

prefLabel

orofacial cleft 5

subClassOf

http://purl.obolibrary.org/obo/MONDO_0016044

http://purl.obolibrary.org/obo/MONDO_0016043

http://purl.obolibrary.org/obo/MONDO_0015420

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