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Preferred Name

Pierre Robin Syndrome
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85010
code

C85010
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

NICHD
DEFINITION

A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate.
FULL_SYN

Pierre Robin Sequence

Pierre Robin Syndrome

Robin Sequence
label

Pierre Robin Syndrome
Preferred_Name

Pierre Robin Syndrome
prefixIRI

Thesaurus:C85010
prefLabel

Pierre Robin Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0031900
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193
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http://purl.bioontology.org/ontology/MESH/D010855 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU015092 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/261800 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM