Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Facial cleft

Synonyms

Tessier facial cleft

Facial cleft

Cleft of the face

Facial clefts

Definitions

A congenital malformation with a cleft (gap or opening) in the face. The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.

ID

http://purl.obolibrary.org/obo/HP_0002006

comment

The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.

database_cross_reference

UMLS:C0685787

SNOMEDCT_US:92821006

definition

A congenital malformation with a cleft (gap or opening) in the face.

has_exact_synonym

Tessier facial cleft

Facial cleft

Cleft of the face

has_obo_namespace

human_phenotype

has_related_synonym

Facial clefts

id

HP:0002006

in_subset

http://purl.obolibrary.org/obo/hp.obo#hposlim_core

label

Facial cleft

notation

HP:0002006

prefLabel

Facial cleft

treeView

http://purl.obolibrary.org/obo/HP_0000271

subClassOf

http://purl.obolibrary.org/obo/HP_0000271

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http://purl.bioontology.org/ontology/OMIM/MTHU028089 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0015411 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015411 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124510 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_141229 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM