Medical Subject Headings

Last uploaded: November 5, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

Otocephaly
Synonyms

Agnathia-otocephaly complex
ID

http://purl.bioontology.org/ontology/MESH/C562503
altLabel

Agnathia-otocephaly complex
cui

C0265242
HM

D019465
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D019465
MDA

20121105
MeSH Frequency

15
MMR

20160929
notation

C562503
prefLabel

Otocephaly
SC

3
Scope Statement

A rare congenital condition characterized by mandibular hypoplasia or agnathia (absence of mandible), mispositioning of the ear auricles (melotia) and/or abnormal fusion of the earlobes (synotia), and MICROSTOMIA with oroglossal hypoplasia or aglossia. It occurs frequently with HOLOPROSENCEPHALY; skeletal, genitourinary, and cardiovascular anomalies, and SITUS INVERSUS may also be present. The disorder is almost always lethal and is caused by mutations in the paired related homeobox 1 gene (PRRX1) OMIM: 202650
TERMUI

T800834

T000906384
TH

OMIM (2016)

OMIM (2013)
tui

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU037231 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/MTHU037231 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124568 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/167420 Online Mendelian Inheritance in Man CUI
http://purl.bmicc.cn/ontology/ICD11CN/LA23 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q18.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/202650 Online Mendelian Inheritance in Man CUI