Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

MEDIATOR COMPLEX SUBUNIT 12

Synonyms

OPITZ-KAVEGGIA SYNDROME

MED12

TRAP230

TRINUCLEOTIDE REPEAT-CONTAINING GENE 11

MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF

HOPA

KIAA0192

HUMAN OPPOSITE PAIRED GENE

OHDO SYNDROME, X-LINKED

TNRC11

THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE

HARDIKAR SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/300188

altLabel

OPITZ-KAVEGGIA SYNDROME

MED12

TRAP230

TRINUCLEOTIDE REPEAT-CONTAINING GENE 11

MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF

HOPA

KIAA0192

HUMAN OPPOSITE PAIRED GENE

OHDO SYNDROME, X-LINKED

TNRC11

THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE

HARDIKAR SYNDROME

cui

C0220769

C0796022

C3698541

C1537677

C0795969

Gene Locus

Xq13

Gene Symbol

OKS

TNRC11

HDKR

TRAP230

KIAA0192

HOPA

MED12

FGS1

OHDOX

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300188.0009

http://purl.bioontology.org/ontology/OMIM/300188.0003

http://purl.bioontology.org/ontology/OMIM/300188.0008

http://purl.bioontology.org/ontology/OMIM/300188.0004

http://purl.bioontology.org/ontology/OMIM/300188.0002

http://purl.bioontology.org/ontology/OMIM/300188.0006

http://purl.bioontology.org/ontology/OMIM/300188.0005

http://purl.bioontology.org/ontology/OMIM/300188.0001

http://purl.bioontology.org/ontology/OMIM/300188.0007

MIMTYPEMEANING

Gene with known sequence

notation

300188

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

MEDIATOR COMPLEX SUBUNIT 12

tui

T047

T028

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