Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

PAIRED BOX GENE 6

Synonyms

FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES

ID

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

altLabel

FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES

MORNING GLORY DISC ANOMALY

OPTIC NERVE HYPOPLASIA, BILATERAL

ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE

KERATITIS, AUTOSOMAL DOMINANT

ANIRIDIA, ATYPICAL

PAX6

OPTIC NERVE APLASIA, BILATERAL

FOVEAL HYPOPLASIA 1 WITH CATARACT

COLOBOMA, OCULAR

ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES

ANIRIDIA

CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY

COLOBOMA OF OPTIC NERVE

FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES

FOVEAL HYPOPLASIA 1

cui

C4017657

C1418276

C1835698

C0155299

C4017066

C4310841

C4310884

C3805604

C1833798

C4017067

C0003076

C3554721

C0009363

C3805349

C4017070

C1833797

Gene Locus

11p13

Gene Symbol

FVH1

MGDA

AN2

ASGD5

PAX6

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

607108

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PAIRED BOX GENE 6

tui

T047

T033

T019

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP99726-9 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C537022 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/44295002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C563493 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10027974 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10009934 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C563492 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/715339004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715339004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0654 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/377.23 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/P3560 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.31 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/C535970 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.319 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q14.2 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DA-77544 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44295002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10002532 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10002532 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003313 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/69278003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10002532 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/P343. RCD CUI
http://purl.bioontology.org/ontology/WHOFRE/0689 WHOFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q13.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/69278003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D015783 MESH CUI
http://purl.bioontology.org/ontology/WHO/0689 WHO-ART CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0310 SNMI CUI
http://purl.bioontology.org/ontology/ICD10/Q13.1 ICD10 CUI
http://purl.bioontology.org/ontology/LNC/LA24630-8 LOINC CUI
http://purl.bioontology.org/ontology/ICD9CM/743.45 ICD9CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D015783 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10027974 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027974 MEDDRA CUI
http://purl.bioontology.org/ontology/WHOFRE/0689 WHOFRE CUI
http://purl.bioontology.org/ontology/WHO/0689 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRGER/10009937 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LA24662-1 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10009937 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/93390002 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000810 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q13.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/93390002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10009934 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X77st RCD CUI
http://purl.bioontology.org/ontology/MESH/D003103 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10009934 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D003103 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10009937 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0006 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/DA-70340 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.033 ICD10CM CUI