Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

cyclopia sequence

Synonyms

cyclopian defect

ID

http://purl.bioontology.org/ontology/MESH/C562573

altLabel

cyclopian defect

cyclocephaly

Demyer Sequence

synophthalmia

Holoprosencephaly 1

Cyclopia

Cyclopia defect

cui

C0266667

HM

D016142

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D016142

MDA

20121105

MeSH Frequency

103

MMR

20200930

notation

C562573

prefLabel

cyclopia sequence

SC

3

Scope Statement

A hereditary autosomal recessive form of holoprosencephaly which maps to chromosome 21. OMIM: 236100

TERMUI

T000994641

T810759

T000994637

T806911

T000994636

T800962

T000994639

T000994640

TH

OMIM (2013)

NLM (2020)

tui

T019

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http://purl.bioontology.org/ontology/OMIM/236100 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026547 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU014657 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI