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Preferred Name

Acrocephalosyndactyly
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34348
code

C34348
Concept_In_Subset

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

NICHD
DEFINITION

A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
FULL_SYN

Acrocephalosyndactyly
label

Acrocephalosyndactyly
Legacy Concept Name

Acrocephalosyndactyly
Preferred_Name

Acrocephalosyndactyly
prefixIRI

Thesaurus:C34348
prefLabel

Acrocephalosyndactyly
Semantic_Type

Disease or Syndrome

Congenital Abnormality
UMLS_CUI

C3806012
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97151

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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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU067413 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0019796 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019796 Experimental Factor Ontology / 实验性因素本体 LOOM