Preferred Name

PAIRED BOX GENE 6

Synonyms

COLOBOMA OF OPTIC NERVE

ID

http://purl.bioontology.org/ontology/OMIM/607108

altLabel

COLOBOMA OF OPTIC NERVE

OPTIC NERVE APLASIA, BILATERAL

ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES

OPTIC NERVE HYPOPLASIA, BILATERAL

FOVEAL HYPOPLASIA 1

ANIRIDIA, ATYPICAL

ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE

ANIRIDIA

FOVEAL HYPOPLASIA 1 WITH CATARACT

KERATITIS, AUTOSOMAL DOMINANT

CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY

COLOBOMA, OCULAR

MORNING GLORY DISC ANOMALY

PAX6

FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES

FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES

cui

C0155299

C1835698

C0003076

C1833798

C3805604

C0009363

C4310884

C4017657

C4310841

C3554721

C4017070

C1833797

C4017066

C3805349

C1418276

C4017067

Gene Locus

11p13

Gene Symbol

FVH1

ASGD5

PAX6

MGDA

AN2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/607108.0014

http://purl.bioontology.org/ontology/OMIM/607108.0007

http://purl.bioontology.org/ontology/OMIM/607108.0021

http://purl.bioontology.org/ontology/OMIM/607108.0006

http://purl.bioontology.org/ontology/OMIM/607108.0008

http://purl.bioontology.org/ontology/OMIM/607108.0019

http://purl.bioontology.org/ontology/OMIM/607108.0015

http://purl.bioontology.org/ontology/OMIM/607108.0026

http://purl.bioontology.org/ontology/OMIM/607108.0009

http://purl.bioontology.org/ontology/OMIM/607108.0003

http://purl.bioontology.org/ontology/OMIM/607108.0011

http://purl.bioontology.org/ontology/OMIM/607108.0010

http://purl.bioontology.org/ontology/OMIM/607108.0012

http://purl.bioontology.org/ontology/OMIM/607108.0024

http://purl.bioontology.org/ontology/OMIM/607108.0023

http://purl.bioontology.org/ontology/OMIM/607108.0004

http://purl.bioontology.org/ontology/OMIM/607108.0025

http://purl.bioontology.org/ontology/OMIM/607108.0005

http://purl.bioontology.org/ontology/OMIM/607108.0017

http://purl.bioontology.org/ontology/OMIM/607108.0016

http://purl.bioontology.org/ontology/OMIM/607108.0018

http://purl.bioontology.org/ontology/OMIM/607108.0020

http://purl.bioontology.org/ontology/OMIM/607108.0022

http://purl.bioontology.org/ontology/OMIM/607108.0002

http://purl.bioontology.org/ontology/OMIM/607108.0001

http://purl.bioontology.org/ontology/OMIM/607108.0013

MIMTYPEMEANING

Gene with known sequence

notation

607108

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PAIRED BOX GENE 6

tui

T028

T019

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LA24630-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q13.0 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/ICD10CM/Q14.2 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/ICD10CM/H47.31 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q13.1 《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/MESH/D003103 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.319 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/ICD10CM/Q13.1 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/ICD10/Q13.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.033 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/C537022 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C563493 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP99726-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/D015783 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LA24662-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C535970 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C563492 Medical Subject Headings / 医学主题词表 CUI