Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

AUTOIMMUNE REGULATOR

Synonyms

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT

ID

http://purl.bioontology.org/ontology/OMIM/607358

altLabel

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT

AIRE

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA

cui

C1855869

C1412304

C4017081

C2749602

Gene Locus

21q22.3

Gene Symbol

APECED

AIRE

APS1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/607358.0007

http://purl.bioontology.org/ontology/OMIM/607358.0009

http://purl.bioontology.org/ontology/OMIM/607358.0005

http://purl.bioontology.org/ontology/OMIM/607358.0001

http://purl.bioontology.org/ontology/OMIM/607358.0004

http://purl.bioontology.org/ontology/OMIM/607358.0002

http://purl.bioontology.org/ontology/OMIM/607358.0008

http://purl.bioontology.org/ontology/OMIM/607358.0006

http://purl.bioontology.org/ontology/OMIM/607358.0003

http://purl.bioontology.org/ontology/OMIM/607358.0010

http://purl.bioontology.org/ontology/OMIM/607358.0012

http://purl.bioontology.org/ontology/OMIM/607358.0011

MIMTYPEMEANING

Gene with known sequence

notation

607358

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

AUTOIMMUNE REGULATOR

tui

T047

T033

T028

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