Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

HARDIKAR SYNDROME
Synonyms

HDKR
ID

http://purl.bioontology.org/ontology/OMIM/301068
altLabel

HDKR
cui

C0795969
Gene Locus

Xq13
Gene Symbol

OKS

TNRC11

HDKR

TRAP230

KIAA0192

HOPA

MED12

FGS1

OHDOX
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU024953

http://purl.bioontology.org/ontology/OMIM/MTHU068929

http://purl.bioontology.org/ontology/OMIM/MTHU011456

http://purl.bioontology.org/ontology/OMIM/MTHU012460

http://purl.bioontology.org/ontology/OMIM/MTHU009985

http://purl.bioontology.org/ontology/OMIM/MTHU024961

http://purl.bioontology.org/ontology/OMIM/MTHU024956

http://purl.bioontology.org/ontology/OMIM/MTHU073592

http://purl.bioontology.org/ontology/OMIM/MTHU024957

http://purl.bioontology.org/ontology/OMIM/MTHU024947

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU003427

http://purl.bioontology.org/ontology/OMIM/MTHU007302

http://purl.bioontology.org/ontology/OMIM/MTHU007610

http://purl.bioontology.org/ontology/OMIM/MTHU073596

http://purl.bioontology.org/ontology/OMIM/MTHU003461

http://purl.bioontology.org/ontology/OMIM/MTHU038541

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU024952

http://purl.bioontology.org/ontology/OMIM/MTHU037338

http://purl.bioontology.org/ontology/OMIM/MTHU001311

http://purl.bioontology.org/ontology/OMIM/MTHU024954

http://purl.bioontology.org/ontology/OMIM/MTHU024958

http://purl.bioontology.org/ontology/OMIM/MTHU073595

http://purl.bioontology.org/ontology/OMIM/MTHU005305

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU036659

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU009125

http://purl.bioontology.org/ontology/OMIM/MTHU024959

http://purl.bioontology.org/ontology/OMIM/MTHU008022

http://purl.bioontology.org/ontology/OMIM/MTHU073591

http://purl.bioontology.org/ontology/OMIM/MTHU073593

http://purl.bioontology.org/ontology/OMIM/MTHU019102

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU024950

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU024955

http://purl.bioontology.org/ontology/OMIM/MTHU005778

http://purl.bioontology.org/ontology/OMIM/MTHU024939

http://purl.bioontology.org/ontology/OMIM/MTHU054092

http://purl.bioontology.org/ontology/OMIM/MTHU073594

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU024951

http://purl.bioontology.org/ontology/OMIM/MTHU007310
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

612726
notation

301068
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HARDIKAR SYNDROME
Scope Statement

Caused by mutation in the mediator complex subunit 12 gene (MED12, 300188.0007) [MOLECULAR BASIS]

Onset at birth [MISCELLANEOUS]
tui

T047
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