Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Pierre-Robin sequence

Synonyms

Pierre-robin anomaly

Robin sequence

Pierre Robin sequence

Pierre-robin deformity

Pierre-robin malformation

Definitions

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.

ID

http://purl.obolibrary.org/obo/HP_0000201

database_cross_reference

MSH:D010855

SNOMEDCT_US:4602007

UMLS:C0031900

definition

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.

has_exact_synonym

Pierre-robin anomaly

Robin sequence

Pierre Robin sequence

Pierre-robin deformity

Pierre-robin malformation

has_obo_namespace

human_phenotype

id

HP:0000201

label

Pierre-Robin sequence

notation

HP:0000201

prefLabel

Pierre-Robin sequence

treeView

http://purl.obolibrary.org/obo/HP_0031816

subClassOf

http://purl.obolibrary.org/obo/HP_0031816

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http://purl.bioontology.org/ontology/OMIM/MTHU045545 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004640 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/HP_0000201 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/HP_0000201 Experimental Factor Ontology / 实验性因素本体 SAME_URI