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Preferred Name

HOLOPROSENCEPHALY 1
Synonyms

ARHINENCEPHALY
ID

http://purl.bioontology.org/ontology/OMIM/236100
altLabel

ARHINENCEPHALY

DEMYER SEQUENCE

HPEC

HOLOPROSENCEPHALY, FAMILIAL ALOBAR

HPE1

HPE, FAMILIAL

CYCLOPIA
cui

C0266667

C0078982

C0431363

C0079541
Gene Locus

21q22.3
Gene Symbol

HPE1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU025004

http://purl.bioontology.org/ontology/OMIM/MTHU026548

http://purl.bioontology.org/ontology/OMIM/MTHU026540

http://purl.bioontology.org/ontology/OMIM/MTHU026546

http://purl.bioontology.org/ontology/OMIM/MTHU026544

http://purl.bioontology.org/ontology/OMIM/MTHU028089

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU026554

http://purl.bioontology.org/ontology/OMIM/MTHU026552

http://purl.bioontology.org/ontology/OMIM/MTHU026550

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU013463

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU048955

http://purl.bioontology.org/ontology/OMIM/MTHU048953

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU026539

http://purl.bioontology.org/ontology/OMIM/MTHU026547

http://purl.bioontology.org/ontology/OMIM/MTHU026541

http://purl.bioontology.org/ontology/OMIM/MTHU026545

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU026543

http://purl.bioontology.org/ontology/OMIM/MTHU026549

http://purl.bioontology.org/ontology/OMIM/MTHU026551

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU026555

http://purl.bioontology.org/ontology/OMIM/MTHU026553

http://purl.bioontology.org/ontology/OMIM/MTHU008543

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU048954

http://purl.bioontology.org/ontology/OMIM/MTHU013824
MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.
notation

236100
OMIM Entry Type

5
OMIM MimType Value

perc
prefLabel

HOLOPROSENCEPHALY 1
Scope Statement

Variable severity [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain [MISCELLANEOUS]

Genetic heterogeneity [MISCELLANEOUS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110881 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q04.2 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.2 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/LNC/LA19658-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10/Q04.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 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.obolibrary.org/obo/MONDO_0009349 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.1 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/MESH/C562573 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D016142 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D016142 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D016142 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q04.1 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI