National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Otocephaly

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124568

ALT_DEFINITION

Absence or extreme underdevelopment of the lower jaw, producing closeness of the ears below the face. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)

code

C124568

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124310

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61410

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C77526

Contributing_Source

CDISC

DEFINITION

A fatal, congenital, anatomic defect of the head characterised by a total or near total absence of the lower jaw, resulting in the union or close approach of the ears on the ventral side of the neck.

label

Otocephaly

Preferred_Name

Otocephaly

prefixIRI

C124568

prefLabel

Otocephaly

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2849

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http://purl.bioontology.org/ontology/OMIM/MTHU037231 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA23 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/C562503 Medical Subject Headings LOOM